A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3547668



Internal ID18748744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:43750095..43760642hg38UCSC Ensembl
Outerchr11:43749939..43761159hg38UCSC Ensembl
Innerchr11:43771645..43782192hg19UCSC Ensembl
Outerchr11:43771489..43782709hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg3811221
hg1911221
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9746415
Samples
Known GenesHSD17B12
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3547668
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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