A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676058



Internal ID9595477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:35494297..35497903hg38UCSC Ensembl
Outerchr17:35493926..35498273hg38UCSC Ensembl
Innerchr17:33821316..33824922hg19UCSC Ensembl
Outerchr17:33820945..33825292hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg384348
hg194348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5839813, essv5586892, essv5970389, essv6296953, essv5734961, essv5778605, essv5756438, essv6165838, essv5931872, essv6164377, essv6312371, essv6359799, essv5726946, essv6576666, essv6459985, essv5463082
SamplesHG01173, HG01052, HG01051, HG01168, HG01083, HG01069, HG01072, HG01187, HG01171, HG01107, HG01204, HG00638, HG01174, HG01108, HG01082, HG01061
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676058
Frequency
Sample Size1151
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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