A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14800712



Internal ID5391356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:76015331..76017868hg38UCSC Ensembl
Innerchr13:76015333..76017866hg38UCSC Ensembl
Outerchr13:76015329..76017870hg38UCSC Ensembl
chr13:76589467..76592004hg19UCSC Ensembl
Innerchr13:76589469..76592002hg19UCSC Ensembl
Outerchr13:76589465..76592006hg19UCSC Ensembl
Cytoband13q22.2
Allele length
AssemblyAllele length
hg382538
hg192538
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632761
Supporting Variants
SamplesNA18940
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14800712
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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