A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3632066



Internal ID7018876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:50402270..50404088hg38UCSC Ensembl
Innerchr13:50402270..50404088hg38UCSC Ensembl
Outerchr13:50401855..50404512hg38UCSC Ensembl
chr13:50976406..50978224hg19UCSC Ensembl
Innerchr13:50976406..50978224hg19UCSC Ensembl
Outerchr13:50975991..50978648hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg381819
hg191819
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14726688, essv14726682, essv14726685, essv14726677, essv14726678, essv14726684, essv14726687, essv14726680, essv14726679, essv14726690, essv14726689, essv14726686, essv14726683, essv14726681
SamplesNA18596, HG03018, HG04059, HG03603, HG03913, HG02070, HG01810, HG04180, HG03846, HG02137, NA20887, NA20897, HG03642, HG01846
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3632066
Frequency
Sample Size2504
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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