A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13246093



Internal ID2748156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:85545909..85632167hg38UCSC Ensembl
Innerchr8:85545918..85632158hg38UCSC Ensembl
Outerchr8:85545900..85632176hg38UCSC Ensembl
chr8:86458138..86544396hg19UCSC Ensembl
Innerchr8:86458147..86544387hg19UCSC Ensembl
Outerchr8:86458129..86544405hg19UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg3886259
hg1986259
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617879
Supporting Variants
SamplesHG02410
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13246093
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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