A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14687074



Internal ID1696755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:33871265..33879877hg38UCSC Ensembl
Innerchr13:33871279..33879863hg38UCSC Ensembl
Outerchr13:33871251..33879891hg38UCSC Ensembl
chr13:34445402..34454014hg19UCSC Ensembl
Innerchr13:34445416..34454000hg19UCSC Ensembl
Outerchr13:34445388..34454028hg19UCSC Ensembl
Cytoband13q13.2
Allele length
AssemblyAllele length
hg388613
hg198613
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631745
Supporting Variants
SamplesHG01572
Known GenesRFC3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14687074
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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