Variant DetailsVariant: esv3576224 | Internal ID | 18704422 | | Landmark | | | Location Information | | | Cytoband | 6q22.31 | | Allele length | | Assembly | Allele length | | hg38 | 5325 | | hg19 | 5325 |
| | Variant Type | CNV gain | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | dgv1829e212 | | Supporting Variants | essv9781821, essv9781743, essv9781880, essv9781773, essv9781774, essv9781806, essv9781626, essv9781681, essv9781825, essv9781652, essv9781884, essv9781835, essv9781713, essv9781628, essv9781854, essv9781699, essv9781705, essv9781694, essv9781798, essv9781591, essv9781869, essv9781772, essv9781815, essv9781749, essv9781614, essv9781588, essv9781647, essv9781838, essv9781790, essv9781596, essv9781583, essv9781663, essv9781650, essv9781829, essv9781601, essv9781792, essv9781769, essv9781673, essv9781631, essv9781697, essv9781831, essv9781715, essv9781861, essv9781814, essv9781688, essv9781640, essv9781768, essv9781605, essv9781846, essv9781649, essv9781641, essv9781609, essv9781607, essv9781616, essv9781763, essv9781803, essv9781632, essv9781636, essv9781832, essv9781618, essv9781648, essv9781719, essv9781653, essv9781775, essv9781617, essv9781780, essv9781757, essv9781666, essv9781727, essv9781603, essv9781770, essv9781797, essv9781739, essv9781585, essv9781599, essv9781679, essv9781682, essv9781661, essv9781824, essv9781683, essv9781643, essv9781612, essv9781747, essv9781779, essv9781724, essv9781787, essv9781735, essv9781723, essv9781613, essv9781671, essv9781620, essv9781736, essv9781731, essv9781730, essv9781702, essv9781883, essv9781759, essv9781619, essv9781782, essv9781761, essv9781848, essv9781748, essv9781740, essv9781672, essv9781877, essv9781858, essv9781794, essv9781728, essv9781762, essv9781593, essv9781783, essv9781753, essv9781871, essv9781812, essv9781868, essv9781725, essv9781776, essv9781764, essv9781676, essv9781639, essv9781850, essv9781840, essv9781752, essv9781788, essv9781665, essv9781655, essv9781808, essv9781584, essv9781837, essv9781826, essv9781690, essv9781856, essv9781823, essv9781710, essv9781745, essv9781886, essv9781703, essv9781820, essv9781698, essv9781693, essv9781891, essv9781737, essv9781876, essv9781691, essv9781610, essv9781684, essv9781651, essv9781863, essv9781839, essv9781851, essv9781847, essv9781669, essv9781721, essv9781874, essv9781828, essv9781637, essv9781717, essv9781707, essv9781675, essv9781685, essv9781795, essv9781859, essv9781777, essv9781594, essv9781801, essv9781680, essv9781712, essv9781635, essv9781597, essv9781670, essv9781885, essv9781692, essv9781606, essv9781582, essv9781604, essv9781706, essv9781654, essv9781658, essv9781888, essv9781864, essv9781646, essv9781845, essv9781791, essv9781810, essv9781726, essv9781629, essv9781862, essv9781708, essv9781642, essv9781816, essv9781704, essv9781732, essv9781742, essv9781843, essv9781890, essv9781865, essv9781734, essv9781718, essv9781638, essv9781872, essv9781659, essv9781836, essv9781716, essv9781627, essv9781581, essv9781662, essv9781615, essv9781592, essv9781879, essv9781809, essv9781751, essv9781818, essv9781802, essv9781714, essv9781860, essv9781754, essv9781758, essv9781813, essv9781674, essv9781746, essv9781695, essv9781729, essv9781664, essv9781579, essv9781887, essv9781805, essv9781741, essv9781819, essv9781590, essv9781766, essv9781827, essv9781720, essv9781701, essv9781786, essv9781834, essv9781796, essv9781738, essv9781852, essv9781677, essv9781765, essv9781602, essv9781849, essv9781875, essv9781817, essv9781881, essv9781807, essv9781630, essv9781857, essv9781686, essv9781625, essv9781660, essv9781830, essv9781624, essv9781842, essv9781841, essv9781793, essv9781784, essv9781882, essv9781750, essv9781870, essv9781760, essv9781595, essv9781771, essv9781586, essv9781785, essv9781634, essv9781623, essv9781668, essv9781696, essv9781873, essv9781587, essv9781781, essv9781804, essv9781687, essv9781657, essv9781853, essv9781608, essv9781580, essv9781799, essv9781621, essv9781598, essv9781709 | | Samples | 401482CB, 401474CE, 401020DJ, 400424LN, 400926LJ, 400204SC, 400739SS, 400789KV, 400114GR, 401275SJ, 400101EH, 401592NR, 401380OL, 401962BK, 400906BR, 400429YF, 402067KS, 401302LJ, 401783BD, 401719RL, 401491BB, 401442WR, 401249TP, 400730SH, 400641WJ, 400620MT, 400347VJ, 401500OM, 400528LR, 401634CH, 400298ME, 400718PS, 401808PS, 401792KR, 400482MD, 400882DD, 400337HG, 401690HA, 401184MM, 400749VW, 401832MC, 401664SD, 401550SP, 400609FJ, 400478WE, 400729HC, 400107MJ, 400270BD, 400186WC, 401739BJ, 400733SW, 401377MA, 401013GJ, 400793BR, 401873BK, 401977ES, 400282RA, 401505WI, 401785MJ, 400302HW, 401591BE, 401870FB, 400791GC, 400977SC, 401230NL, 400660GK, 401494PD, 401357MH, 401119DK, 401804FG, 401526WB, 400093BL, 401519SA, 400381CA, 401318AV, 401475MK, 401513KC, 401762SD, 401943KA, 401619BT, 400705KK, 401444LD, 401017SC, 400639RP, 400603CJ, 401981GF, 401039PA, 400846MC, 401702GB, 400258BC, 400520FM, 400354TJ, 400450FG, 401778CB, 40050SB, 400611GG, 400695PH, 400474GF, 400795CL, 401361GG, 400837HN, 400601WC, 400156WT, 401025SM, 401958MF, 401287CF, 400759FV, 401054VM, 400501SJ, 401661HD, 400410CD, 401571SD, 401858TP, 401240ML, 401152MV, 400930MK, 401372RR, 401135CS, 401763SG, 401681MS, 401358VP, 400106PC, 401912HD, 401781SL, 401266HM, 400315DA, 400013TA, 401177SL, 400833BB, 400508RD, 400178RH, 400150SS, 400079AP, 400540BM, 400021ME, 400923OA, 401246HH, 400782IE, 401180GR, 401102RD, 401799DP, 400287BP, 401191MI, 401636WR, 401706BJ, 400927BD, 400308SP, 400599CP, 401465TB, 400880TM, 400618GC, 401852SK, 401400NP, 401385BB, 401769CR, 400094RS, 400876OG, 40031BA, 401235IA, 400626FC, 400468OB, 401503MJ, 400683EC, 400574MA, 401742KB, 401498HH, 401117NA, 400272AE, 400866RR, 401966SR, 401079HJ, 401403TD, 401427CB, 401927SK, 400655WB, 401457WK, 400449PK, 401845MJ, 400077EB, 401093VL, 400897MD, 401674DD, 401556KR, 400797ST, 401536BD, 400225CJ, 400658BW, 400245SJ, 400441GS, 401253MC, 401936BA, 401258PC, 401975VD, 400631SJ, 401869BG, 400022WA, 401364NA, 400320RN, 401252AE, 400871CM, 400121PL, 400427SD, 401831TW, 400385LJ, 400338SR, 400353ML, 401198TI, 401994BD, 401818PC, 400717BD, 401801LA, 401393JW, 401238QR, 401353BC, 400109LJ, 400218WK, 400007RG, 401714BM, 401027KW, 400870KC, 401939GD, 401499JR, 401274PA, 401091HS, 400955BE, 401736BF, 400838AM, 401694SG, 401278DM, 401185LE, 401879HJ, 401084BD, 400724CD, 401952UH, 400681MC, 401443JK, 400869BK, 400362TV, 400014SL, 402074RR, 401200BD, 401259LS, 400135DR, 401112LG, 401359HF, 400136DM, 401616WP, 400654YW, 400451kh, 401535RJ, 400624RJ, 400732MA, 401496SL, 400483DP, 401608GE, 400053LE, 400712GC, 400246MG, 401847RK, 401010HT, 402060PD, 400235MP, 401438HT, 402048WB, 401149VA, 400072GR, 401143LK, 400879DS, 401105WS, 400130HA, 401250WD, 400173KP, 400108BJ, 400581VJ, 401053MF, 400164SS, 401254AE, 400243CK, 401993HM, 400091BS, 400668TD, 401111LH | | Known Genes | STL | | 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) | esv3576224
| | Frequency | | Sample Size | 873 | | Observed Gain | 282 | | Observed Loss | 0 | | Observed Complex | 0 | | Frequency | n/a |
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