A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616563



Internal ID6656759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:20199337..20200415hg38UCSC Ensembl
Innerchr8:20199444..20200144hg38UCSC Ensembl
Outerchr8:20199179..20200573hg38UCSC Ensembl
chr8:20056848..20057926hg19UCSC Ensembl
Innerchr8:20056955..20057655hg19UCSC Ensembl
Outerchr8:20056690..20058084hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg381079
hg191079
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13132437, essv13132433, essv13132436, essv13132434, essv13132438, essv13132446, essv13132443, essv13132440, essv13132442, essv13132445, essv13132447, essv13132441, essv13132444, essv13132432, essv13132439, essv13132435
SamplesNA19404, NA19319, HG03111, HG03049, NA19463, NA19429, HG01161, NA19036, NA19360, NA19024, HG02623, NA19175, HG02586, HG02408, HG02678, NA19454
Known GenesATP6V1B2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616563
Frequency
Sample Size2504
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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