A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661443



Internal ID9927548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:15214396..15219502hg38UCSC Ensembl
Outerchr21:15214025..15219872hg38UCSC Ensembl
Innerchr21:16586716..16591822hg19UCSC Ensembl
Outerchr21:16586345..16592192hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg385848
hg195848
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5850901, essv5825147, essv5833793, essv6063994, essv6347671, essv6482973, essv5829331, essv6017277, essv6176774, essv6591618, essv6174476, essv6352422, essv6257451, essv5987604, essv6434762, essv5599307, essv6239085, essv6191499, essv6327196, essv5972595, essv6283281, essv6354508
SamplesNA20508, NA20589, NA20586, NA20774, NA20756, NA20769, NA20768, NA20541, NA20518, NA20757, NA20535, NA20800, NA20524, NA20809, NA20810, NA20526, NA20520, NA20544, NA20516, NA20510, NA20807, NA20754
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661443
Frequency
Sample Size1151
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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