A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3560510



Internal ID18761586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:169029732..169030025hg38UCSC Ensembl
Outerchr2:169029692..169030081hg38UCSC Ensembl
Innerchr2:169886242..169886535hg19UCSC Ensembl
Outerchr2:169886202..169886591hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38390
hg19390
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9759257
Samples
Known GenesABCB11
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3560510
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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