Variant DetailsVariant: esv3581288 | Internal ID | 18362800 | | Landmark | | | Location Information | | | Cytoband | 14q24.3 | | Allele length | | Assembly | Allele length | | hg38 | 17194 | | hg19 | 17194 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | dgv660e212 | | Supporting Variants | essv9806763, essv9806699, essv9806660, essv9806686, essv9806654, essv9806736, essv9806751, essv9806687, essv9806639, essv9806646, essv9806685, essv9806663, essv9806721, essv9806696, essv9806671, essv9806683, essv9806735, essv9806708, essv9806658, essv9806762, essv9806726, essv9806753, essv9806718, essv9806771, essv9806705, essv9806691, essv9806706, essv9806737, essv9806675, essv9806669, essv9806743, essv9806690, essv9806682, essv9806709, essv9806664, essv9806676, essv9806742, essv9806732, essv9806766, essv9806655, essv9806704, essv9806761, essv9806681, essv9806677, essv9806745, essv9806754, essv9806668, essv9806670, essv9806739, essv9806720, essv9806723, essv9806715, essv9806701, essv9806741, essv9806651, essv9806770, essv9806752, essv9806657, essv9806693, essv9806672, essv9806640, essv9806757, essv9806641, essv9806769, essv9806666, essv9806728, essv9806730, essv9806712, essv9806750, essv9806749, essv9806710, essv9806673, essv9806679, essv9806661, essv9806768, essv9806748, essv9806649, essv9806642, essv9806707, essv9806758, essv9806684, essv9806637, essv9806714, essv9806659, essv9806674, essv9806703, essv9806694, essv9806697, essv9806725, essv9806653, essv9806648, essv9806665, essv9806740, essv9806765, essv9806638, essv9806719, essv9806764, essv9806729, essv9806716, essv9806717, essv9806688, essv9806692, essv9806652, essv9806738, essv9806713, essv9806680, essv9806727, essv9806760, essv9806734, essv9806746, essv9806731, essv9806759, essv9806662, essv9806747, essv9806724, essv9806702, essv9806698 | | Samples | 401474CE, 401636WR, 400599CP, 401162TM, 401196CR, 400987FB, 401212HJ, 400432VA, 400917CG, 400468OB, 401962BK, 400970VE, 400683EC, 401972BA, 400083TG, 401966SR, 400141CC, 401841OB, 401403TD, 401783BD, 401927SK, 401384BP, 401820SD, 400199SA, 401857VG, 400948EV, 400937OR, 400360SM, 401936BA, 400827MM, 400438DB, 400227MM, 400066MA, 400051MR, 400343BD, 401006ES, 400588BE, 400203NA, 401401BA, 400460DM, 401596PJ, 401495NR, 402056KD, 400579HJ, 400270BD, 401234MB, 400198MD, 400060MC, 401377MA, 401050GS, 400983PV, 401979TB, 401386WA, 401347DH, 400383HL, 400352CA, 401725MR, 401085LA, 401655DC, 400533BB, 400040CN, 401477ST, 401834CB, 401913GT, 401125LM, 401494PD, 401853WR, 400758KP, 400543CK, 401318AV, 400829MR, 401475MK, 401859GS, 401563TK, 401930GD, 401084BD, 400724CD, 4000657TM, 401504RJ, 400361HC, 401017SC, 400888MS, 400047DS, 401889FR, 401493HC, 400603CJ, 401711WS, 401011PJ, 401369GR, 401696CG, 400378HL, 400168HC, 401595BL, 401898DS, 401496SL, 400881GS, 401847RK, 400677HD, 401054VM, 400267GD, 400410CD, 401265CB, 400328LM, 400044HS, 400271SR, 400525MR, 400106PC, 400785AK, 400315DA, 401154BR, 400291VJ, 400209BS, 400540BM, 401517PR, 400152MR, 401490TL, 401246HH | | Known Genes | ACOT1, HEATR4 | | 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) | esv3581288
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 117 | | Observed Complex | 0 | | Frequency | n/a |
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