A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12255814



Internal ID5121674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:31266886..31351971hg38UCSC Ensembl
Innerchr6:31267036..31351821hg38UCSC Ensembl
Outerchr6:31266736..31352121hg38UCSC Ensembl
chr6:31234663..31319748hg19UCSC Ensembl
Innerchr6:31234813..31319598hg19UCSC Ensembl
Outerchr6:31234513..31319898hg19UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3885086
hg1985086
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608545
Supporting Variants
SamplesNA18563
Known GenesHLA-C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12255814
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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