A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1726e212



Internal ID20150182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:29861331..29906852hg38UCSC Ensembl
chr6:29829108..29874629hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg3845522
hg1945522
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
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)dgv1726e212
Frequency
Sample Size873
Observed Gain0
Observed Loss42
Observed Complex0
Frequencyn/a


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