Variant DetailsVariant: esv3568970 | Internal ID | 18697168 | | Landmark | | | Location Information | | | Cytoband | 3q13.32 | | Allele length | | Assembly | Allele length | | hg38 | 13174 | | hg19 | 13174 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | dgv1402e212 | | Supporting Variants | essv9767825, essv9767884, essv9767877, essv9767914, essv9767829, essv9767913, essv9767804, essv9767815, essv9767944, essv9767846, essv9767822, essv9767915, essv9767821, essv9767916, essv9767897, essv9767950, essv9767948, essv9767816, essv9767840, essv9767814, essv9767817, essv9767810, essv9767928, essv9767891, essv9767842, essv9767861, essv9767853, essv9767892, essv9767887, essv9767876, essv9767885, essv9767843, essv9767949, essv9767855, essv9767955, essv9767844, essv9767841, essv9767813, essv9767911, essv9767953, essv9767908, essv9767835, essv9767946, essv9767857, essv9767809, essv9767849, essv9767931, essv9767838, essv9767802, essv9767818, essv9767909, essv9767811, essv9767858, essv9767888, essv9767920, essv9767870, essv9767893, essv9767940, essv9767957, essv9767807, essv9767873, essv9767886, essv9767919, essv9767800, essv9767924, essv9767938, essv9767910, essv9767803, essv9767805, essv9767864, essv9767875, essv9767854, essv9767907, essv9767922, essv9767898, essv9767860, essv9767906, essv9767896, essv9767881, essv9767872, essv9767874, essv9767905, essv9767954, essv9767951, essv9767837, essv9767926, essv9767929, essv9767850, essv9767902, essv9767894, essv9767828, essv9767927, essv9767851, essv9767939, essv9767930, essv9767830, essv9767952, essv9767880, essv9767806, essv9767942, essv9767918, essv9767826, essv9767865, essv9767839, essv9767895, essv9767847, essv9767836, essv9767921, essv9767833, essv9767937, essv9767852, essv9767925, essv9767903, essv9767827, essv9767899, essv9767869, essv9767941, essv9767947, essv9767863, essv9767883, essv9767882, essv9767820, essv9767808, essv9767900, essv9767936, essv9767935, essv9767871, essv9767824, essv9767932, essv9767904, essv9767889, essv9767832, essv9767943, essv9767819, essv9767799, essv9767933, essv9767917, essv9767831, essv9767848, essv9767859, essv9767866, essv9767862, essv9767878 | | Samples | 400316SL, 401636WR, 400920MK, 401706BJ, 400599CP, 400424LN, 401292ER, 401196CR, 400926LJ, 401212HJ, 401640WJ, 400619MP, 400268SY, 400455SJ, 400432VA, 401285HN, 401734PG, 400336BG, 400094RS, 401956DQ, 400876OG, 401592NR, 401235IA, 401380OL, 400140WM, 401972BA, 400574MA, 401330RR, 400272AE, 401403TD, 400068PW, 401719RL, 400655WB, 400730SH, 400553PP, 401949MN, 401468RL, 400797ST, 400509CJ, 401536BD, 400225CJ, 400937OR, 400245SJ, 401190WC, 400486LS, 400360SM, 401936BA, 401390DG, 400155CW, 400627CC, 400743LS, 400051MR, 401239PR, 400773GS, 402065BG, 401214BJ, 400688FL, 400148MS, 400061DE, 401690HA, 400231LP, 400073HT, 401401BA, 400526DR, 401364NA, 401831TW, 400338SR, 401994BD, 400478WE, 400717BD, 401801LA, 401997HB, 400729HC, 400582WS, 400502GS, 400109LJ, 401620BA, 401192MJ, 400413FJ, 401448BJ, 400763BT, 401785MJ, 400352CA, 400007RG, 400533BB, 400791GC, 400070PC, 400955BE, 400977SC, 400838AM, 401230NL, 400660GK, 401494PD, 401694SG, 401185LE, 401825TH, 400724CD, 401942MP, 401619BT, 401311GL, 402022SM, 402054BD, 401443JK, 400854SG, 401493HC, 400603CJ, 400869BK, 400278PD, 400846MC, 400319HT, 400598DA, 400571WV, 400695PH, 400430KV, 400177CG, 400030WD, 401535RJ, 400454RE, 400770MA, 400722OM, 400158FB, 400712GC, 401315HK, 400295PS, 400677HD, 401958MF, 400759FV, 401054VM, 401265CB, 401861GG, 401143LK, 400811SK, 401215MJ, 400849SH, 400785AK, 401154BR, 400833BB, 401932GN, 401053MF, 400300SD, 401254AE, 400890IT, 401068SD | | Known Genes | | | 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) | esv3568970
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 143 | | Observed Complex | 0 | | Frequency | n/a |
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