A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13240758



Internal ID2157346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:82279961..82289731hg38UCSC Ensembl
Innerchr8:82279974..82289719hg38UCSC Ensembl
Outerchr8:82279949..82289744hg38UCSC Ensembl
chr8:83192196..83201966hg19UCSC Ensembl
Innerchr8:83192209..83201954hg19UCSC Ensembl
Outerchr8:83192184..83201979hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg389771
hg199771
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617811
Supporting Variants
SamplesHG01951
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13240758
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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