A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616568



Internal ID7003454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:20343322..20583698hg38UCSC Ensembl
Innerchr8:20343472..20583548hg38UCSC Ensembl
Outerchr8:20343172..20583848hg38UCSC Ensembl
chr8:20200833..20441209hg19UCSC Ensembl
Innerchr8:20200983..20441059hg19UCSC Ensembl
Outerchr8:20200683..20441359hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38240377
hg19240377
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13132508, essv13132509
SamplesNA20774, NA19917
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616568
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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