Variant DetailsVariant: esv3569272 | Internal ID | 18697470 | | Landmark | | | Location Information | | | Cytoband | 4p16.1 | | Allele length | | Assembly | Allele length | | hg38 | 4941 | | hg19 | 4941 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | dgv1457e212 | | Supporting Variants | essv9770026, essv9769820, essv9769805, essv9769958, essv9769902, essv9769871, essv9769937, essv9769899, essv9769954, essv9769826, essv9770007, essv9769853, essv9770030, essv9769907, essv9769834, essv9769781, essv9769856, essv9769881, essv9769981, essv9769971, essv9769779, essv9770039, essv9769929, essv9769796, essv9769829, essv9769864, essv9769804, essv9769921, essv9769996, essv9769794, essv9769818, essv9769924, essv9769947, essv9769993, essv9769989, essv9770022, essv9769970, essv9769868, essv9769849, essv9769982, essv9769945, essv9769890, essv9769983, essv9769920, essv9769880, essv9769841, essv9769882, essv9769851, essv9769969, essv9769916, essv9769786, essv9769887, essv9769837, essv9769918, essv9769904, essv9770014, essv9769997, essv9769919, essv9769803, essv9769797, essv9770025, essv9769985, essv9769967, essv9770013, essv9769901, essv9769873, essv9769885, essv9769876, essv9769830, essv9769824, essv9769801, essv9769874, essv9770009, essv9769953, essv9769808, essv9769960, essv9769814, essv9769792, essv9770000, essv9769862, essv9769897, essv9769948, essv9769934, essv9769980, essv9770041, essv9770016, essv9769949, essv9769938, essv9769910, essv9770031, essv9769927, essv9769865, essv9769994, essv9769783, essv9769973, essv9769828, essv9769964, essv9769787, essv9769913, essv9770015, essv9769785, essv9769861, essv9769812, essv9769825, essv9769870, essv9769898, essv9770038, essv9770028, essv9769974, essv9769976, essv9769850, essv9769917, essv9769963, essv9770011, essv9770020, essv9770006, essv9769852, essv9769931, essv9769951, essv9769813, essv9769857, essv9769884, essv9769926, essv9769930, essv9769839, essv9770010, essv9769840, essv9769939, essv9769915, essv9769817, essv9770024, essv9769802, essv9769827, essv9769859, essv9769799, essv9769895, essv9769823, essv9769846, essv9770036, essv9769875, essv9769905, essv9769935, essv9769894, essv9769992, essv9769986, essv9770005, essv9769959, essv9769941, essv9769883, essv9769952, essv9770003, essv9769928, essv9769815, essv9770035, essv9769790, essv9769942, essv9769961, essv9769923, essv9769848, essv9769806, essv9769793, essv9769987, essv9769932, essv9770029, essv9770002, essv9770017, essv9769845, essv9769995, essv9769975, essv9769893, essv9769940, essv9769912, essv9769962, essv9769891, essv9769908, essv9770008, essv9769854, essv9769863, essv9770037, essv9769965, essv9769998, essv9769821, essv9769892, essv9769991, essv9769879, essv9770021, essv9769936, essv9769780, essv9770018, essv9769925, essv9769888, essv9769798, essv9769957, essv9769836, essv9769860, essv9769816, essv9769972, essv9770004, essv9769784, essv9770033, essv9769858, essv9769831, essv9770032, essv9769877, essv9769810, essv9769842, essv9769838, essv9769835, essv9769943, essv9769946, essv9770019, essv9769872, essv9769909, essv9769914, essv9769886, essv9769819, essv9769795, essv9769807, essv9770027, essv9769791, essv9769903, essv9769782, essv9769896, essv9769984, essv9770040, essv9769956, essv9769843, essv9769788, essv9769950, essv9769869, essv9769832, essv9769809, essv9769988, essv9769968, essv9769906, essv9769999, essv9769847 | | Samples | 401474CE, 400316SL, 401749DJ, 401292ER, 400439IM, 400619MP, 401986LC, 400114GR, 401673DM, 401380OL, 401460LW, 401074CM, 401321CE, 401302LJ, 401719RL, 401491BB, 401249TP, 400730SH, 401918CA, 400553PP, 401949MN, 401820SD, 401434VN, 400059SV, 400277LM, 401426WD, 400509CJ, 400558BL, 400486LS, 401634CH, 400674CA, 400606HW, 400743LS, 400343BD, 401006ES, 401239PR, 400503HD, 401908YM, 400773GS, 400203NA, 400134WK, 402038MR, 401214BJ, 400688FL, 401401BA, 400033KC, 401832MC, 400307HW, 400356MC, 401664SD, 401104DM, 401038LN, 400609FJ, 400653GP, 400107MJ, 400270BD, 400793BR, 400413FJ, 401175FA, 401591BE, 400702PA, 400977SC, 400207HN, 401357MH, 400093BL, 401519SA, 400914ER, 400381CA, 401730MS, 400800MW, 401444LD, 400547BS, 401262RR, 401075MN, 402001SR, 400387HE, 400639RP, 401086MD, 400846MC, 401580CA, 401940SJ, 400354TJ, 401307VR, 401334DH, 400454RE, 401203MP, 400542EG, 401898DS, 400601WC, 400156WT, 401611CD, 401552BK, 400759FV, 401894PD, 401661HD, 400267GD, 401858TP, 400769SL, 401135CS, 401763SG, 400849SH, 400177SJ, 401781SL, 400013TA, 402042BJ, 401628GC, 401153HS, 400150SS, 400540BM, 400890IT, 401066MM, 401799DP, 401021SC, 400911GA, 401706BJ, 400927BD, 400599CP, 401162TM, 400984LD, 400987FB, 401852SK, 401212HJ, 401640WJ, 401489CB, 401385BB, 400917CG, 400594VJ, 400094RS, 400313DF, 400626FC, 400468OB, 400622SJ, 400230TB, 401966SR, 400141CC, 401427CB, 401931JL, 401195PN, 400325BE, 401733CG, 401093VL, 401824MM, 401468RL, 401674DD, 400340CD, 400948EV, 401355CD, 400245SJ, 401308LD, 400360SM, 401390DG, 401173AI, 401064FR, 401975VD, 401281BP, 402028BD, 401687LR, 400127MD, 400526DR, 401672FD, 400121PL, 400292LP, 401155ML, 400817MB, 400385LJ, 400353ML, 401994BD, 400333CC, 400717BD, 402056KD, 401393JW, 400113LD, 401192MJ, 400763BT, 400383HL, 401726LW, 400615RI, 400974PS, 400515ZG, 401655DC, 400236DB, 402063WM, 401499JR, 401274PA, 401540NA, 400955BE, 401617KM, 400838AM, 401026AM, 401210PB, 400375KA, 400076LC, 401879HJ, 401346FJ, 400681MC, 401892MJ, 401443JK, 400524NJ, 401011PJ, 402074RR, 401369GR, 401200BD, 400999HR, 401884WJ, 401696CG, 401259LS, 400788PV, 400943DV, 401914PR, 400654YW, 400168HC, 400722OM, 401608GE, 400881GS, 400246MG, 401010HT, 401786WD, 402048WB, 400586RD, 401166WJ, 401143LK, 402073LQ, 400792RE, 401817MC, 401354KM, 401932GN, 400661AD, 401969DR, 401053MF, 401612HB, 400243CK, 400942HR, 400255CD, 401395OP, 400668TD, 400234CA, 400704LC | | Known Genes | TBC1D14 | | 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) | esv3569272
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 237 | | Observed Complex | 0 | | Frequency | n/a |
|
|
