A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671593



Internal ID9937698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:40355764..40357670hg38UCSC Ensembl
Outerchr17:40355393..40358040hg38UCSC Ensembl
Innerchr17:38512016..38513922hg19UCSC Ensembl
Outerchr17:38511645..38514292hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg382648
hg192648
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5643212, essv5528228, essv5796976, essv5518674, essv6077084, essv6257777, essv5728742, essv5527682, essv5822438, essv6101331, essv6268106, essv6229839, essv6061870, essv5827944, essv6562792, essv5784280, essv6170348, essv6234559, essv5639710, essv6402575, essv5765522, essv6276592, essv5498190, essv5606977, essv5446628, essv6558631, essv5462157, essv5405767, essv6151544, essv6561397, essv6494070, essv5449511, essv6520910, essv5409432, essv6410998, essv5884008, essv6317420, essv5722649, essv6438473, essv5624355, essv5660688, essv6267286, essv5906067, essv5706056, essv6156871
SamplesHG01060, HG01173, HG01052, HG01079, HG01188, HG01066, HG00737, HG01051, HG00641, HG01070, HG01167, HG01168, HG00736, HG01083, HG01069, HG01080, HG01067, HG01170, HG01072, HG01176, HG01198, HG01048, HG01183, HG00731, HG01187, HG01171, HG00732, HG01095, HG01047, HG01102, HG01073, HG01197, HG01182, HG01101, HG01107, HG01204, HG01075, HG01190, HG00734, HG01174, HG01108, HG01055, HG01082, HG01191, HG01061
Known GenesRARA
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671593
Frequency
Sample Size1151
Observed Gain0
Observed Loss45
Observed Complex0
Frequencyn/a


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