A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667732



Internal ID9933837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:72055200..72056506hg38UCSC Ensembl
Outerchr9:72054829..72056876hg38UCSC Ensembl
Innerchr9:74670116..74671422hg19UCSC Ensembl
Outerchr9:74669745..74671792hg19UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg382048
hg192048
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6432572, essv5692469, essv5533677, essv6339002, essv5900408, essv6568520, essv6415821, essv5521546, essv5508270, essv5669963, essv6399963, essv6473842, essv5734149, essv5700366, essv5790247, essv5917727, essv6274739, essv6376406, essv5397475, essv5440112, essv6221893, essv6164206, essv5841473, essv5634070, essv5605421, essv5579910, essv6272714, essv5871869, essv5677067, essv5408529, essv5661292, essv5604814, essv6128673, essv6088947, essv6156898, essv6439479, essv5554636, essv5930880
SamplesHG01060, HG01173, HG01079, HG01188, HG01066, HG00737, HG01051, HG00641, HG01167, HG01080, HG01067, HG01170, HG01072, HG01176, HG01198, HG00637, HG01048, HG01183, HG00731, HG01187, HG01171, HG00732, HG01095, HG00740, HG01047, HG01073, HG01182, HG01107, HG01204, HG01075, HG00734, HG01174, HG01108, HG01055, HG01082, HG00554, HG01061, HG00553
Known GenesC9orf57
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667732
Frequency
Sample Size1151
Observed Gain0
Observed Loss38
Observed Complex0
Frequencyn/a


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