Variant DetailsVariant: esv3569415 | Internal ID | 18697613 | | Landmark | | | Location Information | | | Cytoband | 4p11 | | Allele length | | Assembly | Allele length | | hg38 | 8824 | | hg19 | 8824 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | | | Supporting Variants | essv9770805, essv9770761, essv9770726, essv9770760, essv9770680, essv9770664, essv9770793, essv9770799, essv9770794, essv9770795, essv9770769, essv9770727, essv9770670, essv9770708, essv9770705, essv9770657, essv9770814, essv9770809, essv9770740, essv9770710, essv9770754, essv9770682, essv9770750, essv9770677, essv9770671, essv9770819, essv9770745, essv9770652, essv9770791, essv9770775, essv9770668, essv9770737, essv9770734, essv9770786, essv9770813, essv9770785, essv9770774, essv9770752, essv9770787, essv9770681, essv9770781, essv9770715, essv9770823, essv9770697, essv9770695, essv9770758, essv9770772, essv9770649, essv9770716, essv9770694, essv9770770, essv9770707, essv9770679, essv9770802, essv9770685, essv9770706, essv9770751, essv9770666, essv9770763, essv9770801, essv9770653, essv9770782, essv9770724, essv9770669, essv9770815, essv9770719, essv9770684, essv9770704, essv9770812, essv9770663, essv9770803, essv9770673, essv9770690, essv9770672, essv9770693, essv9770699, essv9770698, essv9770662, essv9770798, essv9770651, essv9770777, essv9770797, essv9770764, essv9770821, essv9770741, essv9770655, essv9770788, essv9770779, essv9770691, essv9770768, essv9770735, essv9770665, essv9770661, essv9770674, essv9770658, essv9770817, essv9770688, essv9770723, essv9770650, essv9770784, essv9770766, essv9770660, essv9770743, essv9770808, essv9770776, essv9770748, essv9770721, essv9770729, essv9770725, essv9770675, essv9770654, essv9770749, essv9770687, essv9770732, essv9770738, essv9770696, essv9770647, essv9770757, essv9770746, essv9770820, essv9770659, essv9770765, essv9770790, essv9770759, essv9770730, essv9770807, essv9770804, essv9770753, essv9770718, essv9770703, essv9770676, essv9770762, essv9770713, essv9770771, essv9770736, essv9770720, essv9770686, essv9770712, essv9770702, essv9770731, essv9770747, essv9770792, essv9770717, essv9770818, essv9770780, essv9770709, essv9770701, essv9770739, essv9770806, essv9770742, essv9770783, essv9770692, essv9770796, essv9770728, essv9770683, essv9770816, essv9770810, essv9770714, essv9770648, essv9770773 | | Samples | 400801HS, 401021SC, 400316SL, 400920MK, 400911GA, 400359OR, 400927BD, 400308SP, 401110GJ, 400424LN, 400926LJ, 401852SK, 400739SS, 401640WJ, 400619MP, 400432VA, 400594VJ, 400294HD, 400622SJ, 400140WM, 401911FL, 400574MA, 400230TB, 401330RR, 400956AM, 401321CE, 400221VM, 400141CC, 401302LJ, 400068PW, 400949AM, 401719RL, 400655WB, 400595CP, 401491BB, 401931JL, 401249TP, 401384BP, 400899NK, 400553PP, 400325BE, 401949MN, 401733CG, 401820SD, 400855BD, 400641WJ, 401602PR, 400934LA, 401402EN, 400493KH, 400620MT, 401936BA, 401990PR, 401906DT, 401281BP, 400669LD, 401926MR, 400743LS, 401263HS, 400343BD, 401006ES, 400882DD, 401935TM, 401908YM, 400600DP, 402038MR, 400061DE, 401184MM, 400348DK, 401838EN, 401831TW, 401038LN, 400564SN, 400478WE, 401133JG, 400344DR, 402056KD, 402029KJ, 401791FG, 400113LD, 400186WC, 400109LJ, 401377MA, 401726LW, 400663MD, 400302HW, 400416KA, 400515ZG, 401900RJ, 400040CN, 401091HS, 401834CB, 401863BD, 400977SC, 400285FA, 401185LE, 400829MR, 401730MS, 401084BD, 400547BS, 400006DK, 401087SF, 401493HC, 401067BD, 400978JG, 401711WS, 402074RR, 401580CA, 401795SP, 400598DA, 401874DJ, 401176BD, 401700BN, 401514BA, 401182OC, 400329HJ, 400444MM, 400654YW, 400451kh, 401535RJ, 400454RE, 400542EG, 400770MA, 400483DP, 400158FB, 401365DJ, 400845ML, 401010HT, 400759FV, 400235MP, 401786WD, 400267GD, 400128MJ, 400586RD, 400328LM, 400205SP, 401152MV, 401809FU, 400719TM, 401797LS, 400849SH, 401817MC, 401358VP, 400315DA, 400173KP, 401554VN, 401177SL, 400150SS, 400079AP, 401882CR, 400300SD, 400012CJ, 401612HB, 401576WC, 401510DG, 400021ME, 401254AE, 401993HM, 401490TL, 400645KM | | Known Genes | FRYL | | 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) | esv3569415
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 160 | | Observed Complex | 0 | | Frequency | n/a |
|
|
