A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14676029



Internal ID1928732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:26892252..26894208hg38UCSC Ensembl
Innerchr13:26892252..26894208hg38UCSC Ensembl
Outerchr13:26891973..26894492hg38UCSC Ensembl
chr13:27466389..27468345hg19UCSC Ensembl
Innerchr13:27466389..27468345hg19UCSC Ensembl
Outerchr13:27466110..27468629hg19UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg381957
hg191957
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631613
Supporting Variants
SamplesHG01799
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14676029
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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