A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657601



Internal ID9577020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:117793801..117797707hg38UCSC Ensembl
Outerchr11:117793430..117798077hg38UCSC Ensembl
Innerchr11:117664516..117668422hg19UCSC Ensembl
Outerchr11:117664145..117668792hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg384648
hg194648
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5784797, essv6121612, essv5435109, essv5820644, essv5461781, essv5408701, essv5432792, essv6315916, essv6477960, essv6231323, essv6325258, essv5411314, essv6198352, essv6260001, essv6583817, essv6168715, essv6140325, essv5476920, essv6412248, essv6067967, essv5871339, essv6551871, essv6241310, essv6297717, essv6427714, essv6040038, essv6314890, essv5930633
SamplesHG00160, HG00261, HG00148, HG00122, HG00106, HG00111, HG00253, HG00156, HG00256, HG00244, HG00158, HG00242, HG00250, HG00259, HG00141, HG00149, HG00125, HG00254, HG00237, HG00263, HG00239, HG00249, HG00246, HG00236, HG01334, HG00118, HG00136, HG00126
Known GenesDSCAML1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657601
Frequency
Sample Size1151
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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