Variant DetailsVariant: esv3583987 | Internal ID | 18712185 | | Landmark | | | Location Information | | | Cytoband | 2q11.2 | | Allele length | | Assembly | Allele length | | hg38 | 23125 | | hg19 | 23125 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | dgv1157e212 | | Supporting Variants | essv9834707, essv9834774, essv9834740, essv9834626, essv9834780, essv9834658, essv9834752, essv9834643, essv9834762, essv9834624, essv9834757, essv9834750, essv9834719, essv9834671, essv9834620, essv9834638, essv9834776, essv9834627, essv9834674, essv9834636, essv9834694, essv9834467, essv9834770, essv9834652, essv9834647, essv9834778, essv9834760, essv9834665, essv9834489, essv9834642, essv9834556, essv9834680, essv9834747, essv9834641, essv9834714, essv9834654, essv9834630, essv9834769, essv9834736, essv9834779, essv9834640, essv9834753, essv9834621, essv9834754, essv9834716, essv9834775, essv9834500, essv9834767, essv9834731, essv9834726, essv9834478, essv9834751, essv9834764, essv9834687, essv9834717, essv9834663, essv9834567, essv9834739, essv9834611, essv9834746, essv9834681, essv9834693, essv9834732, essv9834660, essv9834625, essv9834708, essv9834715, essv9834685, essv9834672, essv9834578, essv9834695, essv9834712, essv9834589, essv9834628, essv9834704, essv9834759, essv9834745, essv9834656, essv9834683, essv9834718, essv9834522, essv9834697, essv9834728, essv9834703, essv9834730, essv9834673, essv9834635, essv9834545, essv9834686, essv9834705, essv9834682, essv9834756, essv9834632, essv9834742, essv9834734, essv9834721, essv9834651, essv9834670, essv9834645, essv9834758, essv9834631, essv9834768, essv9834661, essv9834713, essv9834667, essv9834600, essv9834639, essv9834727, essv9834772, essv9834657, essv9834729, essv9834773, essv9834698, essv9834679, essv9834662, essv9834534, essv9834749, essv9834696, essv9834763, essv9834761, essv9834701, essv9834650, essv9834735, essv9834653, essv9834690, essv9834684, essv9834664, essv9834678, essv9834676, essv9834649, essv9834706, essv9834771, essv9834692, essv9834668, essv9834738, essv9834724, essv9834743, essv9834675, essv9834737, essv9834702, essv9834689, essv9834781, essv9834725, essv9834646, essv9834748, essv9834741, essv9834659, essv9834648, essv9834634, essv9834720, essv9834691, essv9834637, essv9834669, essv9834629, essv9834623, essv9834723, essv9834511, essv9834765, essv9834700, essv9834709 | | Samples | 400833BB, 401458RT, 400581VJ, 400178RH, 400079AP, 400164SS, 401576WC, 400138LA, 400923OA, 400494ML, 401490TL, 401180GR, 401497PR, 401474CE, 401021SC, 400287BP, 401459HF, 400920MK, 400911GA, 400075MR, 400308SP, 401020DJ, 400424LN, 400364SS, 400145BL, 401292ER, 400984LD, 401196CR, 400987FB, 401146US, 400917CG, 401769CR, 400094RS, 400313DF, 401592NR, 400512LR, 400626FC, 401503MJ, 401074CM, 401972BA, 401299ST, 400068PW, 400852WJ, 401783BD, 401719RL, 400655WB, 400595CP, 401457WK, 401949MN, 401733CG, 400641WJ, 401857VG, 400509CJ, 400191MP, 401030GI, 400493KH, 400523GB, 400241CP, 401136LB, 400360SM, 401551MB, 400528LR, 401975VD, 401281BP, 400606HW, 401297KC, 400675HC, 401263HS, 401687LR, 401869BG, 400882DD, 401935TM, 400203NA, 402065BG, 401214BJ, 402012RR, 400460DM, 401184MM, 400749VW, 401252AE, 400368SD, 400032RC, 401495NR, 400836LK, 400478WE, 401133JG, 401029SD, 401353BC, 401620BA, 400060MC, 401377MA, 400041LJ, 401050GS, 401505WI, 400352CA, 401027KW, 400533BB, 401274PA, 400040CN, 400110MD, 401477ST, 400838AM, 401230NL, 401119DK, 401804FG, 401652HL, 400093BL, 400375KA, 400381CA, 401968HL, 400994HJ, 401879HJ, 401563TK, 401813DN, 401630MK, 400686BM, 400050RL, 401952UH, 400681MC, 400888MS, 401812HG, 400047DS, 400249BC, 401067BD, 400978JG, 400278PD, 401039PA, 400422PN, 401795SP, 400598DA, 401778CB, 401696CG, 401259LS, 401112LG, 400695PH, 401700BN, 401182OC, 401410BJ, 400329HJ, 400030WD, 400444MM, 400201PK, 401203MP, 400458LS, 401496SL, 400845ML, 400156WT, 402051AF, 401894PD, 401786WD, 401571SD, 400859SC, 400328LM, 401861GG, 400323AA, 402073LQ, 401135CS, 400106PC, 401354KM, 400785AK | | Known Genes | LONRF2 | | 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) | esv3583987
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 160 | | Observed Complex | 0 | | Frequency | n/a |
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