Variant DetailsVariant: esv3580305 | Internal ID | 18708503 | | Landmark | | | Location Information | | | Cytoband | 12p13.33 | | Allele length | | Assembly | Allele length | | hg38 | 12685 | | hg19 | 12685 |
| | Variant Type | CNV gain | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | dgv442e212 | | Supporting Variants | essv9799889, essv9799857, essv9799905, essv9799771, essv9799803, essv9799834, essv9799726, essv9799886, essv9799856, essv9799774, essv9799703, essv9799818, essv9799824, essv9799898, essv9799801, essv9799748, essv9799800, essv9799845, essv9799813, essv9799791, essv9799780, essv9799817, essv9799762, essv9799698, essv9799718, essv9799783, essv9799871, essv9799847, essv9799785, essv9799894, essv9799838, essv9799760, essv9799724, essv9799868, essv9799781, essv9799825, essv9799720, essv9799719, essv9799778, essv9799715, essv9799906, essv9799836, essv9799853, essv9799840, essv9799893, essv9799872, essv9799776, essv9799761, essv9799816, essv9799897, essv9799750, essv9799758, essv9799723, essv9799730, essv9799809, essv9799727, essv9799784, essv9799697, essv9799876, essv9799841, essv9799896, essv9799882, essv9799861, essv9799901, essv9799705, essv9799887, essv9799765, essv9799879, essv9799736, essv9799883, essv9799869, essv9799820, essv9799768, essv9799787, essv9799884, essv9799786, essv9799873, essv9799831, essv9799867, essv9799701, essv9799738, essv9799722, essv9799717, essv9799892, essv9799746, essv9799833, essv9799812, essv9799830, essv9799729, essv9799772, essv9799851, essv9799829, essv9799794, essv9799756, essv9799863, essv9799734, essv9799797, essv9799770, essv9799759, essv9799700, essv9799826, essv9799811, essv9799775, essv9799741, essv9799764, essv9799904, essv9799848, essv9799835, essv9799767, essv9799707, essv9799828, essv9799808, essv9799846, essv9799747, essv9799757, essv9799695, essv9799902, essv9799874, essv9799891, essv9799815, essv9799890, essv9799714, essv9799814, essv9799850, essv9799731, essv9799858, essv9799805, essv9799713, essv9799864, essv9799753, essv9799849, essv9799744, essv9799862, essv9799790, essv9799837, essv9799823, essv9799773, essv9799725, essv9799855, essv9799792, essv9799716, essv9799704, essv9799733, essv9799895, essv9799819, essv9799796, essv9799782, essv9799751, essv9799827, essv9799763, essv9799740, essv9799880, essv9799752, essv9799860, essv9799735, essv9799822, essv9799875, essv9799870, essv9799737, essv9799878, essv9799907, essv9799793, essv9799852, essv9799709, essv9799769, essv9799807, essv9799789, essv9799739, essv9799702, essv9799885, essv9799842, essv9799900, essv9799859, essv9799806, essv9799696, essv9799712, essv9799711, essv9799749, essv9799706, essv9799742, essv9799795, essv9799802, essv9799728, essv9799881, essv9799804, essv9799798, essv9799779, essv9799708, essv9799844, essv9799745, essv9799839, essv9799903 | | Samples | 400269DA, 400801HS, 401799DP, 400287BP, 401749DJ, 401706BJ, 400927BD, 400701MM, 400364SS, 400145BL, 401465TB, 401292ER, 401196CR, 400926LJ, 400619MP, 401489CB, 400594VJ, 401592NR, 400512LR, 401962BK, 401503MJ, 400683EC, 401911FL, 402067KS, 401330RR, 401117NA, 400221VM, 400995MS, 401841OB, 400068PW, 401183HP, 401899MB, 401457WK, 401151RJ, 400730SH, 401918CA, 401721CP, 401733CG, 401603HH, 401434VN, 400641WJ, 401674DD, 400277LM, 401857VG, 400948EV, 401355CD, 400225CJ, 400620MT, 400953MR, 400558BL, 401500OM, 401308LD, 400528LR, 401258PC, 400298ME, 401281BP, 400606HW, 401792KR, 401263HS, 401780BB, 401239PR, 401113MJ, 400882DD, 401908YM, 402038MR, 400148MS, 400061DE, 400749VW, 400033KC, 400121PL, 401766MR, 401994BD, 401855RE, 400333CC, 402056KD, 402029KJ, 400729HC, 401406KF, 400507VD, 401739BJ, 401620BA, 400060MC, 400218WK, 400843FL, 401764JJ, 401977ES, 401979TB, 400352CA, 400007RG, 401331LJ, 400974PS, 401655DC, 401437MJ, 401591BE, 401274PA, 400070PC, 402033WD, 401623SN, 402052ZA, 401432SB, 401853WR, 401210PB, 400122PL, 401804FG, 401526WB, 401862AN, 401968HL, 401475MK, 401879HJ, 401730MS, 401326LI, 400265LK, 401771OS, 401084BD, 401619BT, 401504RJ, 401606CG, 401311GL, 402022SM, 401812HG, 401443JK, 401493HC, 400249BC, 401067BD, 400603CJ, 400371GA, 401795SP, 401200BD, 400450FG, 401884WJ, 401700BN, 401182OC, 400518MS, 400177CG, 400444MM, 401334DH, 401391PJ, 401057SS, 400837HN, 400458LS, 401496SL, 400770MA, 401608GE, 400053LE, 401016IT, 400471YS, 400881GS, 400156WT, 401844ZD, 401268PS, 401881TJ, 400069CN, 401958MF, 401288LD, 400128MJ, 401438HT, 401571SD, 400769SL, 400328LM, 401861GG, 400996MC, 401809FU, 400323AA, 401797LS, 400271SR, 401912HD, 401781SL, 400130HA, 401250WD, 400084DM, 400013TA, 401554VN, 400833BB, 400508RD, 400261RN, 401628GC, 401836SI, 400178RH, 401932GN, 401453OL, 401882CR, 400164SS, 401612HB, 400540BM, 401480PG, 401517PR, 401066MM, 400942HR, 400091BS, 401395OP, 400668TD, 400494ML | | Known Genes | TEAD4 | | 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) | esv3580305
| | Frequency | | Sample Size | 873 | | Observed Gain | 192 | | Observed Loss | 0 | | Observed Complex | 0 | | Frequency | n/a |
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