A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616991



Internal ID6657187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:41683250..41684538hg38UCSC Ensembl
Innerchr8:41683251..41684538hg38UCSC Ensembl
Outerchr8:41683250..41684539hg38UCSC Ensembl
chr8:41540768..41542056hg19UCSC Ensembl
Innerchr8:41540769..41542056hg19UCSC Ensembl
Outerchr8:41540768..41542057hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg381289
hg191289
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13182222, essv13182221, essv13182218, essv13182225, essv13182220, essv13182219, essv13182223, essv13182224
SamplesNA18647, HG01811, HG02023, NA18570, HG02047, NA18559, HG01874, HG02040
Known GenesANK1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616991
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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