A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv201e212



Internal ID22783128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:34369919..34384136hg38UCSC Ensembl
chr10:34658847..34673064hg19UCSC Ensembl
Cytoband10p11.21
Allele length
AssemblyAllele length
hg3814218
hg1914218
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3578764, esv3578757, esv3578758, esv3578763, esv3578762, esv3578761
Samples400287BP, 400075MR, 400359OR, 401162TM, 400984LD, 400618GC, 400926LJ, 400439IM, 401212HJ, 401400NP, 401052BM, 400821FE, 401285HN, 40031BA, 401962BK, 400574MA, 401302LJ, 400949AM, 400595CP, 401457WK, 400449PK, 401698SB, 401721CP, 401093VL, 401820SD, 400199SA, 401824MM, 400643LD, 401355CD, 400225CJ, 400937OR, 400245SJ, 400486LS, 400523GB, 400241CP, 401132CH, 401936BA, 401390DG, 401926MR, 401792KR, 401687LR, 401869BG, 400588BE, 401252AE, 400368SD, 400307HW, 401155ML, 401831TW, 400385LJ, 400206SC, 402061PI, 401303FM, 401133JG, 402056KD, 400582WS, 401406KF, 400186WC, 401234MB, 400843FL, 401732HW, 401376RD, 400763BT, 401725MR, 401175FA, 400302HW, 400038CK, 401027KW, 401870FB, 401477ST, 401091HS, 401736BF, 400207HN, 400768MN, 401717LP, 401210PB, 401862AN, 400082SD, 400994HJ, 401825TH, 401475MK, 400076LC, 401771OS, 401346FJ, 400844GP, 401262RR, 401075MN, 400006DK, 401039PA, 401919MD, 400422PN, 401587RC, 401307VR, 401874DJ, 401884WJ, 400695PH, 401700BN, 401514BA, 401922MW, 400943DV, 400818BL, 401057SS, 400732MA, 400542EG, 400053LE, 400845ML, 400712GC, 401315HK, 401295HB, 401552BK, 402060PD, 400501SJ, 401661HD, 400267GD, 400128MJ, 400769SL, 400072GR, 401567BD, 400996MC, 401152MV, 401100SJ, 401781SL, 401354KM, 400785AK, 400835FD, 400266BA, 400581VJ, 401932GN, 402024BB, 401254AE, 401993HM, 400942HR, 401395OP, 400532MH, 400494ML, 401068SD, 400704LC, 400982BS, 401180GR
Known GenesPARD3
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)dgv201e212
Frequency
Sample Size873
Observed Gain0
Observed Loss138
Observed Complex0
Frequencyn/a


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