A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645680



Internal ID7032429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:33314255..33321483hg38UCSC Ensembl
chr20:31902061..31909289hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg387229
hg197229
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16175357, essv16175352, essv16175350, essv16175354, essv16175348, essv16175353, essv16175349, essv16175347, essv16175355, essv16175356, essv16175351
SamplesHG02512, HG01851, NA18645, HG02364, HG02137, HG02188, HG02181, HG01801, HG01861, HG02410, HG02186
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645680
Frequency
Sample Size2504
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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