Entity Sequence Variation

DescriptionA location in the human genome where variations have been identified. A polymorphism such as an SNP, repetitive microsatellite, or other genomic variation.

Attributes
Base Quality NumBase Quality Num
Chromosome NumChromosome Num
Chromosome PosChromosome Pos
Cigar StringCigar String
Dbsnp Link TxtDbsnp Link Txt
dbSNP Membership InddbSNP Membership Ind
Hapmap2 Membership IndHapmap2 Membership Ind
Hapmap3 Membership IndHapmap3 Membership Ind
IUPAC NameIUPAC Name
Membership 1000 Genomes IndMembership 1000 Genomes Ind
Original Sequence TxtOriginal Sequence Txt
Sequence TypeSequence Type
Somatic Mutation IndSomatic Mutation Ind
Strand BiasStrand Bias
Validated IndValidated Ind
Variation End PosVariation End Pos
Variation RegionVariation Region
Variation Sequence TxtVariation Sequence Txt
Variation Start PosVariation Start Pos

Relationship
Sequence Variation_Gene_FKSequence Variation_Gene_FK

Dependencies
 NONE

Reverse Dependencies
 

Attribute Details

 Base Quality Num
Description The base quality (RMS - Root Mean Square) of the sequence variation at this position.
Data TypeStandards - Data Domains.ddm/Data Domains/Number Integer [INTEGER]
Is Part Of PrimaryKeyfalse
Is Requiredfalse
Is Derivedfalse
Is Surrogate Keyfalse



 Chromosome Num
DescriptionThe chromosome where the variant is located.
Data TypeStandards - Data Domains.ddm/Data Domains/Number Integer [INTEGER]
Is Part Of PrimaryKeyfalse
Is Requiredfalse
Is Derivedfalse
Is Surrogate Keyfalse



 Chromosome Pos
DescriptionThe position of the variant on the chromosome.
Data TypeStandards - Data Domains.ddm/Data Domains/Position [INTEGER]
Is Part Of PrimaryKeyfalse
Is Requiredfalse
Is Derivedfalse
Is Surrogate Keyfalse



 Cigar String
DescriptionCigar string describing how to align an alternate allele to the reference allele.
Data TypeStandards - Data Domains.ddm/Data Domains/Alphanumeric [VARCHAR(80)]
Is Part Of PrimaryKeyfalse
Is Requiredfalse
Is Derivedfalse
Is Surrogate Keyfalse



 Dbsnp Link Txt
DescriptionA link to dbSNP web URL that contains reference information on the SNP and other variations.
Data TypeStandards - Data Domains.ddm/Data Domains/Text Medium [VARCHAR(255)]
Is Part Of PrimaryKeyfalse
Is Requiredfalse
Is Derivedfalse
Is Surrogate Keyfalse



 dbSNP Membership Ind
DescriptionIndicates the membership of the sequence variation in the database of single nucleotide polymorphisms (SNP).
Data TypeStandards - Data Domains.ddm/Data Domains/Boolean Indicator [INTEGER]
Is Part Of PrimaryKeyfalse
Is Requiredfalse
Is Derivedfalse
Is Surrogate Keyfalse



 Hapmap2 Membership Ind
DescriptionIndicates the membership of the sequence variation in the Hapmap2 Genome Browser.
Data TypeStandards - Data Domains.ddm/Data Domains/Boolean Indicator [INTEGER]
Is Part Of PrimaryKeyfalse
Is Requiredfalse
Is Derivedfalse
Is Surrogate Keyfalse



 Hapmap3 Membership Ind
DescriptionIndicates the membership of the sequence variation in the Hapmap3 Genome Browser.
Data TypeStandards - Data Domains.ddm/Data Domains/Boolean Indicator [INTEGER]
Is Part Of PrimaryKeyfalse
Is Requiredfalse
Is Derivedfalse
Is Surrogate Keyfalse



 IUPAC Name
DescriptionThe International Union of Pure and Applied Chemistry (IUPAC) code for the Single Nucleotide Polymorphism (SNP).
Data TypeStandards - Data Domains.ddm/Data Domains/Name [VARCHAR(30)]
Is Part Of PrimaryKeyfalse
Is Requiredfalse
Is Derivedfalse
Is Surrogate Keyfalse



 Membership 1000 Genomes Ind
DescriptionIndicates the membership in 1000 Genomes Project.
Data TypeStandards - Data Domains.ddm/Data Domains/Boolean Indicator [INTEGER]
Is Part Of PrimaryKeyfalse
Is Requiredfalse
Is Derivedfalse
Is Surrogate Keyfalse



 Original Sequence Txt
DescriptionOriginal DNA sequence of a gene.
Data TypeStandards - Data Domains.ddm/Data Domains/Text Large [VARCHAR(1024)]
Is Part Of PrimaryKeyfalse
Is Requiredfalse
Is Derivedfalse
Is Surrogate Keyfalse



 Sequence Type
DescriptionIndicates whether sequence variation is one of the following:
1 - Single Nucleotide Polymorphism (SNP)
2 - Microsatellite (STR)
3 - Other Variation
Data TypeStandards - Data Domains.ddm/Data Domains/Enumeration [VARCHAR(20)]
Is Part Of PrimaryKeyfalse
Is Requiredfalse
Is Derivedfalse
Is Surrogate Keyfalse



 Somatic Mutation Ind
DescriptionIndicates that the record is a somatic mutation, for cancer genomics.
Data TypeStandards - Data Domains.ddm/Data Domains/Boolean Indicator [INTEGER]
Is Part Of PrimaryKeyfalse
Is Requiredfalse
Is Derivedfalse
Is Surrogate Keyfalse



 Strand Bias
DescriptionStrand bias at this position.
Data TypeStandards - Data Domains.ddm/Data Domains/Alphanumeric [VARCHAR(80)]
Is Part Of PrimaryKeyfalse
Is Requiredfalse
Is Derivedfalse
Is Surrogate Keyfalse



 Validated Ind
DescriptionIndicates that the record has been validated by follow-up experiment.
Data TypeStandards - Data Domains.ddm/Data Domains/Boolean Indicator [INTEGER]
Is Part Of PrimaryKeyfalse
Is Requiredfalse
Is Derivedfalse
Is Surrogate Keyfalse



 Variation End Pos
DescriptionThe ending position of the variant.
Data TypeStandards - Data Domains.ddm/Data Domains/Position [INTEGER]
Is Part Of PrimaryKeyfalse
Is Requiredfalse
Is Derivedfalse
Is Surrogate Keyfalse



 Variation Region
DescriptionDefines the variant to be in a coding region [Exon] or noncoding region [Intron] of the genome.
Data TypeStandards - Data Domains.ddm/Data Domains/Enumeration [VARCHAR(20)]
Is Part Of PrimaryKeyfalse
Is Requiredfalse
Is Derivedfalse
Is Surrogate Keyfalse



 Variation Sequence Txt
DescriptionChange in the DNA sequence of a gene due to sequence variations/polymorphisms.
Data TypeStandards - Data Domains.ddm/Data Domains/Text Large [VARCHAR(1024)]
Is Part Of PrimaryKeyfalse
Is Requiredfalse
Is Derivedfalse
Is Surrogate Keyfalse



 Variation Start Pos
DescriptionThe starting position of the variant.
Data TypeStandards - Data Domains.ddm/Data Domains/Position [INTEGER]
Is Part Of PrimaryKeyfalse
Is Requiredfalse
Is Derivedfalse
Is Surrogate Keyfalse

Relationship Details

 Sequence Variation_Gene_FK
Is Identifying Relationshipfalse
Child TableSequence Variation
Child MultiplicityZERO_TO_MANY
Child Referential Integrity: On DeleteNONE
Child Referential Integrity: On InsertNONE
Child Referential Integrity: On UpdateNONE
Parent TableGene
Parent MultiplicityZERO_TO_ONE
Parent Referential Integrity: On DeleteNONE
Parent Referential Integrity: On InsertNONE
Parent Referential Integrity: On UpdateNONE