Variant Data Model

id

String

Unique variant ID, this consists of chromosome, position, reference and alternate alleles in this format: chrom:pos:ref:alt

names

List<String>

Other IDs found for this genomic variant across all VCF files indexed

chromosome

String

The chromosome where the genomic variant is located

start

int

The 1-based position where the genomic variant starts. For variants coming from VCF files, this position is likely to be normalised, in this case, the original call in the file is stored in studies.files.call (see below)

end

int

The 1-based position where the genomic variant ends. For variants coming from VCF files, this position is likely to be normalised, in this case, the original call in the file is stored in studies.files.call (see below)

reference

String

Reference allele. For variants coming from VCF files, this position is likely to be normalised, in this case, the original call in the file is stored in studies.files.call (see below)

alternate

String

Alternate allele. For variants coming from VCF files, this position is likely to be normalised, in this case, the original call in the file is stored in studies.files.call (see below)

strand

String

Reference strand for this variant, by default all variants are represented in the positive strand

length

int

Length of the genomic variation which depends on the variant type

type

VariantType

Type of variant, the accepted types and Sequence Ontology (SO) terms are:

sv

StructuralVariation

Specific information for Structural Variants

studies

List<StudyEntry>

Information specific to each study the variant was read from, such as samples or statistics

annotatio

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