Variant DetailsVariant: esv3580529 | Internal ID | 18362041 | | Landmark | | | Location Information | | | Cytoband | 12q24.32 | | Allele length | | Assembly | Allele length | | hg38 | 11669 | | hg19 | 11669 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | dgv527e212 | | Supporting Variants | essv9802783, essv9802687, essv9802677, essv9802786, essv9802747, essv9802701, essv9802699, essv9802768, essv9802754, essv9802832, essv9802681, essv9802684, essv9802762, essv9802679, essv9802727, essv9802709, essv9802827, essv9802804, essv9802764, essv9802751, essv9802669, essv9802824, essv9802666, essv9802720, essv9802818, essv9802740, essv9802819, essv9802680, essv9802663, essv9802797, essv9802672, essv9802796, essv9802765, essv9802717, essv9802737, essv9802721, essv9802753, essv9802790, essv9802716, essv9802685, essv9802805, essv9802691, essv9802662, essv9802784, essv9802780, essv9802781, essv9802802, essv9802758, essv9802739, essv9802749, essv9802714, essv9802830, essv9802817, essv9802671, essv9802763, essv9802748, essv9802670, essv9802759, essv9802791, essv9802726, essv9802782, essv9802649, essv9802648, essv9802660, essv9802798, essv9802770, essv9802803, essv9802823, essv9802821, essv9802775, essv9802815, essv9802810, essv9802674, essv9802698, essv9802657, essv9802715, essv9802735, essv9802703, essv9802831, essv9802736, essv9802693, essv9802650, essv9802776, essv9802675, essv9802835, essv9802654, essv9802750, essv9802729, essv9802708, essv9802682, essv9802651, essv9802723, essv9802808, essv9802659, essv9802702, essv9802752, essv9802742, essv9802746, essv9802676, essv9802795, essv9802725, essv9802773, essv9802807, essv9802837, essv9802813, essv9802766, essv9802761, essv9802673, essv9802799, essv9802794, essv9802732, essv9802712, essv9802705, essv9802779, essv9802788, essv9802694, essv9802787, essv9802741, essv9802697, essv9802760, essv9802690, essv9802738, essv9802724, essv9802695, essv9802668, essv9802661, essv9802718, essv9802757, essv9802696, essv9802683, essv9802743, essv9802792, essv9802769, essv9802665, essv9802812, essv9802806, essv9802688, essv9802655, essv9802785, essv9802771, essv9802745, essv9802728, essv9802809, essv9802826, essv9802713, essv9802793, essv9802777, essv9802707, essv9802828, essv9802686, essv9802704, essv9802820, essv9802774, essv9802664, essv9802734, essv9802814, essv9802816, essv9802772, essv9802652, essv9802836, essv9802731, essv9802834, essv9802719, essv9802710, essv9802653, essv9802801, essv9802730, essv9802658, essv9802706, essv9802829, essv9802825, essv9802692 | | Samples | 400927BD, 401020DJ, 400063BR, 401196CR, 400987FB, 401640WJ, 400619MP, 400802DP, 400789KV, 400105BB, 401400NP, 400821FE, 400634MP, 400432VA, 401261HD, 401592NR, 401380OL, 400468OB, 401962BK, 401074CM, 400429YF, 401415CB, 401742KB, 402067KS, 400221VM, 400141CC, 401841OB, 400949AM, 400506GN, 400655WB, 401151RJ, 400553PP, 400325BE, 401721CP, 400077EB, 401468RL, 400641WJ, 401674DD, 400277LM, 401857VG, 400948EV, 400453LN, 400486LS, 400528LR, 400155CW, 401258PC, 401173AI, 402019MC, 401926MR, 401297KC, 400675HC, 400482MD, 400051MR, 401687LR, 401869BG, 401006ES, 401908YM, 400773GS, 400134WK, 402038MR, 401690HA, 402012RR, 400460DM, 401832MC, 401252AE, 400368SD, 400871CM, 401155ML, 401104DM, 401596PJ, 400385LJ, 400338SR, 400206SC, 402061PI, 401746WW, 402056KD, 402029KJ, 401646MC, 400109LJ, 400002HK, 400383HL, 400302HW, 401655DC, 400236DB, 400533BB, 400040CN, 400207HN, 401717LP, 400240HJ, 401494PD, 400960TN, 401423BA, 401519SA, 401968HL, 400829MR, 400994HJ, 401879HJ, 401930GD, 401942MP, 400686BM, 401504RJ, 400361HC, 400681MC, 400547BS, 402022SM, 400006DK, 401443JK, 400886MP, 400211BJ, 401067BD, 401086MD, 400248JO, 400014SL, 400422PN, 400520FM, 400999HR, 401778CB, 401696CG, 401259LS, 400201PK, 401391PJ, 400654YW, 401361GG, 401057SS, 400168HC, 401203MP, 400732MA, 400770MA, 401428LD, 400103BN, 402009WP, 401365DJ, 401295HB, 401277RA, 400863SS, 401413RG, 401314MK, 402048WB, 400971MK, 400586RD, 400072GR, 400205SP, 4000046CJ, 400044HS, 400719TM, 401797LS, 400271SR, 400177SJ, 400106PC, 401105WS, 401781SL, 401354KM, 400315DA, 401250WD, 400835FD, 401735LE, 401554VN, 401040KM, 400833BB, 400508RD, 401628GC, 400213DB, 401932GN, 400661AD, 400150SS, 401882CR, 401053MF, 401066MM, 400138LA, 401395OP, 401068SD, 400982BS | | Known Genes | SLC15A4 | | 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) | esv3580529
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 172 | | Observed Complex | 0 | | Frequency | n/a |
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