A curated catalogue of human genomic structural variation

Variant Details

Variant: dgv1726e212

Internal ID20150182
Location Information
TypeCoordinatesAssemblyOther Links
chr6:29861331..29906852hg38UCSC Ensembl
chr6:29829108..29874629hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3570867, esv3570857, esv3570848, esv3570862, esv3570844, esv3570845
Samples401192MJ, 400654YW, 401962BK, 400641WJ, 400524NJ, 401039PA, 400072GR, 400738WM, 401262RR, 400291VJ, 400203NA, 400494ML, 400225CJ, 401196CR, 401582GG, 40031BA, 402016HZ, 401180GR, 400743LS, 401930GD, 400712GC, 400995MS, 401563TK, 401384BP, 402064DC, 400722OM, 401040KM, 400655WB, 400818BL, 400906BR, 401372RR, 400833BB, 400073HT, 401855RE, 400124FR, 401331LJ, 401889FR, 400791GC, 401791FG, 401535RJ, 400268SY, 401274PA
Known GenesHLA-H
MethodSNP array
AnalysisWe used four separate algorithms to detect CNVs; Affymetrix Chromosome Analysis Suite (ChAS), iPattern, Nexus and Partek. Our primary analysis was performed based on ChAS CNV calls, which were then supported using the remaining three algorithms to construct a confidence set of CNVs. For all algorithms, we have used 8 probes and >1kb as a base line cutoff for CNV detection.
PlatformAffymetrix CytoScan HD 2.7M array
Pubmed ID25503493
Accession Number(s)dgv1726e212
Sample Size873
Observed Gain0
Observed Loss42
Observed Complex0

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