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Variation a owl:Class extends VariationFeature



skos:definition Defines a genomic variant
rdfs:label Variation


property description cardinality type
genotype Genotypes of the sample the variant was called on 0:N VariantGenotype
homozygousSamples Number of Homozygous variant samples 0:1 xsd:Integer
validated Validated 0:1 xsd:string
end The begin position comes always first then the the end position. So for a gene on the reverse complementary strain the begin position is equal to the stop position. We use the same positioning definition as in GenBank and Faldo. 0:1 Position
readDepth Read depth 0:1 xsd:string
numberOfSamples Number of samples with data 0:1 xsd:Integer
mapQuality Mapping Quality 0:1 xsd:string
alleleFreq Frequency in which the alternate allele is found 0:1 xsd:string
referenceAllele Allele of the reference sequence 0:1 xsd:string
ancestralAllele Ancestral Allele 0:1 xsd:string
quality Quality score of the marker 0:1 xsd:string
numberNotCalled Number of samples not called 0:1 xsd:Integer
alleleNumber total number of alleles in called genotypes 0:1 xsd:Integer
alleleCount Alelle Count 0:1 xsd:Integer
varType The type of Variation 1:1 VariationTypes
strandBias Strand bias 0:1 xsd:string
heterozygousSamples Number of Heterozygous variant samples 0:1 xsd:Integer
alternate Allele of the alternate sequence 0:N xsd:string
dbSNP dbSNP membership 0:1 xsd:string
CIGAR Cigar string describing alignment of alternate allele to reference 0:1 xsd:string
ID Variant identification code 0:1 xsd:string
filter filter 0:1 xsd:string
wildtypeSamples Number of wildtype samples 0:1 xsd:Integer
baseQuality RMS base quality 0:1 xsd:string