A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647099



Internal ID7033841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:43081083..43081913hg38UCSC Ensembl
Innerchr21:43081083..43081913hg38UCSC Ensembl
Outerchr21:43080755..43082233hg38UCSC Ensembl
chr21:44501193..44502023hg19UCSC Ensembl
Innerchr21:44501193..44502023hg19UCSC Ensembl
Outerchr21:44500865..44502343hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38831
hg19831
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16325151, essv16325149, essv16325150, essv16325161, essv16325162, essv16325157, essv16325155, essv16325156, essv16325152, essv16325154, essv16325163, essv16325167, essv16325158, essv16325168, essv16325153, essv16325166, essv16325169, essv16325165, essv16325159, essv16325164, essv16325171, essv16325160, essv16325170, essv16325172
SamplesNA20882, HG03796, NA20900, HG01069, HG01398, NA20896, HG00365, HG03884, HG00743, HG03785, HG03714, HG04225, HG03787, HG03771, HG03006, HG03774, NA20821, NA20516, NA20906, HG02107, NA21133, NA11843, NA20528, HG04056
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647099
Frequency
Sample Size2504
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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