Variant DetailsVariant: esv3583997 | Internal ID | 18365509 | | Landmark | | | Location Information | | | Cytoband | 2q12.2 | | Allele length | | Assembly | Allele length | | hg38 | 5211 | | hg19 | 5211 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | dgv1159e212 | | Supporting Variants | essv9834913, essv9834858, essv9834849, essv9834852, essv9834925, essv9834915, essv9834894, essv9834897, essv9834951, essv9834868, essv9834872, essv9834919, essv9834958, essv9834903, essv9834926, essv9834820, essv9834957, essv9834870, essv9834834, essv9834937, essv9834890, essv9834939, essv9834871, essv9834906, essv9834829, essv9834904, essv9834831, essv9834953, essv9834942, essv9834827, essv9834949, essv9834880, essv9834839, essv9834842, essv9834876, essv9834959, essv9834936, essv9834935, essv9834885, essv9834908, essv9834930, essv9834934, essv9834883, essv9834851, essv9834945, essv9834889, essv9834929, essv9834873, essv9834878, essv9834847, essv9834857, essv9834901, essv9834875, essv9834879, essv9834819, essv9834848, essv9834835, essv9834900, essv9834836, essv9834954, essv9834922, essv9834846, essv9834947, essv9834874, essv9834948, essv9834907, essv9834887, essv9834920, essv9834891, essv9834924, essv9834860, essv9834950, essv9834862, essv9834823, essv9834830, essv9834850, essv9834916, essv9834856, essv9834841, essv9834859, essv9834832, essv9834923, essv9834914, essv9834843, essv9834828, essv9834892, essv9834931, essv9834895, essv9834865, essv9834863, essv9834927, essv9834946, essv9834840, essv9834826, essv9834943, essv9834864, essv9834869, essv9834898, essv9834912, essv9834825, essv9834940, essv9834952, essv9834896, essv9834909, essv9834956, essv9834902, essv9834941, essv9834893, essv9834824, essv9834905, essv9834854, essv9834861, essv9834845, essv9834884, essv9834918, essv9834881, essv9834837, essv9834838, essv9834853, essv9834928, essv9834886, essv9834960, essv9834882, essv9834938, essv9834867, essv9834911, essv9834917 | | Samples | 401636WR, 401033DJ, 400927BD, 400308SP, 401110GJ, 400145BL, 400987FB, 400554WB, 401385BB, 400572PJ, 400094RS, 400876OG, 400313DF, 401673DM, 401487FW, 401972BA, 401117NA, 401299ST, 401036WS, 401302LJ, 401457WK, 401931JL, 401249TP, 400897MD, 401434VN, 400347VJ, 400486LS, 400523GB, 401551MB, 400528LR, 401634CH, 402019MC, 400669LD, 400627CC, 400606HW, 401926MR, 401297KC, 401860TJ, 401869BG, 401239PR, 400773GS, 400073HT, 400526DR, 401832MC, 400121PL, 401965TG, 401596PJ, 401495NR, 401994BD, 401855RE, 400717BD, 401773AM, 401801LA, 401997HB, 401791FG, 401646MC, 401192MJ, 400218WK, 401977ES, 401050GS, 400983PV, 401175FA, 401655DC, 400236DB, 401499JR, 400070PC, 400977SC, 401950MD, 401026AM, 401185LE, 401519SA, 400543CK, 401586RS, 401864CV, 401419SW, 401771OS, 400686BM, 400361HC, 402022SM, 401443JK, 400854SG, 401493HC, 400249BC, 400211BJ, 401875FG, 400524NJ, 400248JO, 401039PA, 401795SP, 401702GB, 401359HF, 400430KV, 400136DM, 400728PB, 401203MP, 400458LS, 400483DP, 400601WC, 400712GC, 400295PS, 400677HD, 401958MF, 401894PD, 401054VM, 400501SJ, 400996MC, 402008MC, 400323AA, 401763SG, 400271SR, 401781SL, 401728WK, 400173KP, 401153HS, 400291VJ, 400164SS, 400012CJ, 401612HB, 400540BM, 402024BB, 401480PG, 401254AE, 401993HM, 400138LA, 401395OP, 401246HH, 401497PR | | Known Genes | NCK2 | | 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) | esv3583997
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 127 | | Observed Complex | 0 | | Frequency | n/a |
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