Variant DetailsVariant: esv3578757 | Internal ID | 18706955 | | Landmark | | | Location Information | | | Cytoband | 10p11.21 | | Allele length | | Assembly | Allele length | | hg38 | 10752 | | hg19 | 10752 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | dgv201e212 | | Supporting Variants | essv9792995, essv9793016, essv9793081, essv9793058, essv9793062, essv9793096, essv9793064, essv9793060, essv9793076, essv9792994, essv9793045, essv9792997, essv9793057, essv9793079, essv9792991, essv9793101, essv9793091, essv9792987, essv9792986, essv9793010, essv9793014, essv9793075, essv9793082, essv9793070, essv9793092, essv9793043, essv9793024, essv9793038, essv9793114, essv9793108, essv9792999, essv9793107, essv9793012, essv9792985, essv9792998, essv9793104, essv9793068, essv9793047, essv9793124, essv9793063, essv9793049, essv9793120, essv9793109, essv9792990, essv9793105, essv9793031, essv9793061, essv9793053, essv9793099, essv9793065, essv9793110, essv9792988, essv9793125, essv9793036, essv9793034, essv9793113, essv9793021, essv9793112, essv9793027, essv9793013, essv9793041, essv9793042, essv9793095, essv9793018, essv9793059, essv9793123, essv9793052, essv9793019, essv9793005, essv9793001, essv9793006, essv9793007, essv9793084, essv9793008, essv9793030, essv9793094, essv9792992, essv9793103, essv9793026, essv9793039, essv9793117, essv9793115, essv9793003, essv9793087, essv9793106, essv9793054, essv9793002, essv9793102, essv9793118, essv9793071, essv9793050, essv9793037, essv9793051, essv9793028, essv9793048, essv9793119, essv9793032, essv9793040, essv9793017, essv9793098, essv9793085, essv9793073, essv9793025, essv9793004, essv9793097, essv9793029, essv9793116, essv9793121, essv9793090, essv9793078, essv9793015, essv9793072, essv9793020, essv9793086, essv9793093, essv9793083, essv9792993, essv9793035, essv9793074, essv9793009, essv9793056, essv9792996, essv9793046, essv9793067, essv9793023, essv9793080, essv9793069 | | Samples | 400287BP, 400075MR, 400359OR, 401162TM, 400984LD, 400618GC, 400926LJ, 400439IM, 401212HJ, 401052BM, 400821FE, 401285HN, 40031BA, 401962BK, 400574MA, 401302LJ, 400949AM, 400595CP, 401457WK, 400449PK, 401698SB, 401721CP, 401093VL, 401820SD, 400199SA, 401824MM, 400643LD, 401355CD, 400225CJ, 400486LS, 400523GB, 400241CP, 401132CH, 401936BA, 401390DG, 401926MR, 401792KR, 401687LR, 401869BG, 400588BE, 401252AE, 400368SD, 400307HW, 400385LJ, 400206SC, 402061PI, 401303FM, 401133JG, 402056KD, 400582WS, 401406KF, 400186WC, 401234MB, 400843FL, 401732HW, 400763BT, 401725MR, 401175FA, 400302HW, 400038CK, 401027KW, 401870FB, 401477ST, 401091HS, 401736BF, 400207HN, 400768MN, 401717LP, 401210PB, 401862AN, 400082SD, 400994HJ, 401825TH, 400076LC, 401771OS, 401346FJ, 400844GP, 401262RR, 400006DK, 401039PA, 401919MD, 400422PN, 401587RC, 401307VR, 401874DJ, 401884WJ, 400695PH, 401700BN, 401514BA, 401922MW, 400943DV, 400818BL, 401057SS, 400732MA, 400542EG, 400053LE, 400845ML, 400712GC, 401295HB, 402060PD, 400501SJ, 401661HD, 400267GD, 400128MJ, 400769SL, 400072GR, 401567BD, 400996MC, 401152MV, 401100SJ, 401781SL, 401354KM, 400785AK, 400835FD, 400266BA, 400581VJ, 402024BB, 401254AE, 401993HM, 400942HR, 401395OP, 400532MH, 400494ML, 401068SD, 400704LC, 400982BS, 401180GR | | Known Genes | PARD3 | | Method | SNP array | | Analysis | We 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. | | Platform | Affymetrix CytoScan HD 2.7M array | | Comments | | | Reference | Uddin_et_al_2014 | | Pubmed ID | 25503493 | | Accession Number(s) | esv3578757
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 127 | | Observed Complex | 0 | | Frequency | n/a |
|
|
