A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14786065



Internal ID6315692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:69188478..69218671hg38UCSC Ensembl
Innerchr13:69188978..69218171hg38UCSC Ensembl
Outerchr13:69187478..69219671hg38UCSC Ensembl
chr13:69762610..69792803hg19UCSC Ensembl
Innerchr13:69763110..69792303hg19UCSC Ensembl
Outerchr13:69761610..69793803hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg3830194
hg1930194
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632615
Supporting Variants
SamplesNA19916
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14786065
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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