Variant DetailsVariant: esv3568329 | Internal ID | 18349841 | | Landmark | | | Location Information | | | Cytoband | 22q12.1 | | Allele length | | Assembly | Allele length | | hg38 | 7373 | | hg19 | 7373 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | dgv1309e212 | | Supporting Variants | essv9821900, essv9821917, essv9821813, essv9821911, essv9821851, essv9821887, essv9821819, essv9821872, essv9821894, essv9821922, essv9821924, essv9821898, essv9821807, essv9821826, essv9821884, essv9821855, essv9821825, essv9821893, essv9821927, essv9821864, essv9821934, essv9821907, essv9821896, essv9821839, essv9821883, essv9821811, essv9821844, essv9821850, essv9821833, essv9821837, essv9821912, essv9821842, essv9821873, essv9821869, essv9821892, essv9821936, essv9821929, essv9821902, essv9821859, essv9821861, essv9821836, essv9821841, essv9821878, essv9821876, essv9821923, essv9821904, essv9821913, essv9821860, essv9821827, essv9821871, essv9821895, essv9821890, essv9821808, essv9821856, essv9821840, essv9821847, essv9821838, essv9821886, essv9821920, essv9821916, essv9821897, essv9821931, essv9821875, essv9821868, essv9821849, essv9821853, essv9821919, essv9821881, essv9821809, essv9821937, essv9821820, essv9821824, essv9821928, essv9821874, essv9821880, essv9821891, essv9821915, essv9821835, essv9821822, essv9821930, essv9821903, essv9821828, essv9821848, essv9821925, essv9821882, essv9821905, essv9821845, essv9821831, essv9821829, essv9821885, essv9821926, essv9821862, essv9821867, essv9821858, essv9821816, essv9821889, essv9821933, essv9821812, essv9821830, essv9821818, essv9821918, essv9821909, essv9821935, essv9821814, essv9821823, essv9821852, essv9821901, essv9821870, essv9821846, essv9821863, essv9821879, essv9821834, essv9821914, essv9821906, essv9821815, essv9821908, essv9821857, essv9821817 | | Samples | 401040KM, 400213DB, 400178RH, 400150SS, 401882CR, 401612HB, 401517PR, 400152MR, 400091BS, 401490TL, 401111LH, 400782IE, 400645KM, 400269DA, 401497PR, 401482CB, 400801HS, 401021SC, 400920MK, 400911GA, 400308SP, 400145BL, 400984LD, 400618GC, 401196CR, 400204SC, 401852SK, 400789KV, 400432VA, 401673DM, 400512LR, 400429YF, 401518VK, 401719RL, 401491BB, 401096SL, 400077EB, 401949MN, 400199SA, 401468RL, 401602PR, 401022ML, 400620MT, 400953MR, 400558BL, 401190WC, 401253MC, 400241CP, 401936BA, 401551MB, 400893ZE, 401906DT, 402062KR, 401860TJ, 401695BT, 401252AE, 400292LP, 401818PC, 401746WW, 400717BD, 400653GP, 402056KD, 401997HB, 401609MB, 400502GS, 400507VD, 400109LJ, 401739BJ, 400843FL, 401873BK, 401979TB, 401175FA, 400302HW, 400038CK, 401085LA, 401655DC, 401027KW, 401251WN, 401834CB, 401623SN, 401230NL, 400829MR, 401419SW, 401506LK, 400844GP, 401504RJ, 400705KK, 401311GL, 401262RR, 400888MS, 401812HG, 401067BD, 400319HT, 401307VR, 400999HR, 400721DJ, 401874DJ, 401778CB, 40050SB, 401176BD, 400430KV, 401616WP, 401334DH, 400624RJ, 401428LD, 401608GE, 400053LE, 402051AF, 400677HD, 401958MF, 401288LD, 401438HT, 400586RD, 400996MC, 401166WJ, 401152MV, 401817MC, 401728WK | | Known Genes | TFIP11 | | 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) | esv3568329
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 118 | | Observed Complex | 0 | | Frequency | n/a |
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