A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13223911



Internal ID5667256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:71835628..71837205hg38UCSC Ensembl
Innerchr8:71835628..71837205hg38UCSC Ensembl
Outerchr8:71835336..71837430hg38UCSC Ensembl
chr8:72747863..72749440hg19UCSC Ensembl
Innerchr8:72747863..72749440hg19UCSC Ensembl
Outerchr8:72747571..72749665hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg381578
hg191578
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617603
Supporting Variants
SamplesNA19075
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13223911
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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