Variant DetailsVariant: esv3574257 | Internal ID | 18702455 | | Landmark | | | Location Information | | | Cytoband | Xq22.1 | | Allele length | | Assembly | Allele length | | hg38 | 6544 | | hg19 | 6544 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | | | Supporting Variants | essv9827869, essv9827906, essv9827902, essv9827905, essv9827877, essv9827904, essv9827868, essv9827859, essv9827853, essv9827892, essv9827913, essv9827864, essv9827886, essv9827871, essv9827899, essv9827861, essv9827854, essv9827876, essv9827908, essv9827907, essv9827910, essv9827903, essv9827894, essv9827914, essv9827870, essv9827909, essv9827901, essv9827856, essv9827915, essv9827858, essv9827873, essv9827874, essv9827888, essv9827890, essv9827883, essv9827875, essv9827865, essv9827912, essv9827898, essv9827872, essv9827893, essv9827897, essv9827879, essv9827880, essv9827887, essv9827882, essv9827884, essv9827891, essv9827863, essv9827896, essv9827857, essv9827895, essv9827862, essv9827860, essv9827916, essv9827885, essv9827881 | | Samples | 400634MP, 400737GC, 401487FW, 401380OL, 401911FL, 401117NA, 401302LJ, 401151RJ, 400629BM, 400325BE, 400199SA, 401426WD, 400934LA, 400948EV, 400441GS, 400298ME, 401924ST, 402028BD, 400227MM, 401908YM, 402065BG, 400307HW, 400121PL, 401831TW, 400502GS, 400442FE, 401505WI, 400383HL, 401785MJ, 401726LW, 401331LJ, 400515ZG, 401499JR, 400110MD, 401540NA, 400702PA, 401950MD, 401125LM, 401652HL, 402022SM, 401812HG, 400639RP, 400242TP, 400319HT, 400474GF, 400788PV, 401359HF, 401391PJ, 400542EG, 401496SL, 401016IT, 400156WT, 401661HD, 401912HD, 401105WS, 400152MR, 401207DA | | Known Genes | TAF7L | | 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) | esv3574257
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 57 | | Observed Complex | 0 | | Frequency | n/a |
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