A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3632684



Internal ID7019495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:71948480..71951015hg38UCSC Ensembl
Innerchr13:71948480..71951015hg38UCSC Ensembl
Outerchr13:71948315..71951213hg38UCSC Ensembl
chr13:72522618..72525153hg19UCSC Ensembl
Innerchr13:72522618..72525153hg19UCSC Ensembl
Outerchr13:72522453..72525351hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg382536
hg192536
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14791343, essv14791344, essv14791339, essv14791345, essv14791340, essv14791341, essv14791342, essv14791338
SamplesHG03514, NA18508, HG03199, NA19384, HG03369, NA19395, NA18909, NA20351
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3632684
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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