A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13239837



Internal ID1949348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:81204498..81213174hg38UCSC Ensembl
Innerchr8:81204507..81213166hg38UCSC Ensembl
Outerchr8:81204490..81213183hg38UCSC Ensembl
chr8:82116733..82125409hg19UCSC Ensembl
Innerchr8:82116742..82125401hg19UCSC Ensembl
Outerchr8:82116725..82125418hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg388677
hg198677
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617791
Supporting Variants
SamplesHG01808
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13239837
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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