Variant DetailsVariant: esv3573597 | Internal ID | 18355109 | | Landmark | | | Location Information | | | Cytoband | Xp22.2 | | Allele length | | Assembly | Allele length | | hg38 | 12808 | | hg19 | 12808 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | dgv2227e212 | | Supporting Variants | essv9823707, essv9823713, essv9823718, essv9823806, essv9823805, essv9823747, essv9823803, essv9823790, essv9823745, essv9823727, essv9823799, essv9823762, essv9823716, essv9823724, essv9823726, essv9823768, essv9823791, essv9823782, essv9823765, essv9823736, essv9823714, essv9823764, essv9823774, essv9823797, essv9823717, essv9823794, essv9823770, essv9823749, essv9823748, essv9823795, essv9823757, essv9823728, essv9823807, essv9823738, essv9823785, essv9823758, essv9823739, essv9823723, essv9823741, essv9823743, essv9823784, essv9823742, essv9823753, essv9823735, essv9823760, essv9823740, essv9823731, essv9823779, essv9823754, essv9823788, essv9823787, essv9823786, essv9823719, essv9823737, essv9823725, essv9823783, essv9823720, essv9823710, essv9823730, essv9823804, essv9823798, essv9823792, essv9823771, essv9823769, essv9823712, essv9823759, essv9823715, essv9823801, essv9823746, essv9823708, essv9823766, essv9823796, essv9823772, essv9823750, essv9823761, essv9823802, essv9823776, essv9823721, essv9823809, essv9823808, essv9823763, essv9823781, essv9823734, essv9823780, essv9823793, essv9823732, essv9823775, essv9823709, essv9823773, essv9823729, essv9823752, essv9823777, essv9823751 | | Samples | 400359OR, 400701MM, 400424LN, 401292ER, 401986LC, 400917CG, 400889CM, 400512LR, 400468OB, 401962BK, 400141CC, 401927SK, 401931JL, 400077EB, 401820SD, 400277LM, 401857VG, 400453LN, 400523GB, 400131CM, 402062KR, 400675HC, 400343BD, 400588BE, 402038MR, 400148MS, 400033KC, 400368SD, 400356MC, 401104DM, 400478WE, 400341GL, 400579HJ, 401646MC, 400060MC, 400002HK, 400442FE, 400413FJ, 400282RA, 401050GS, 400983PV, 400383HL, 401726LW, 400663MD, 400738WM, 400533BB, 400870KC, 400070PC, 401834CB, 400977SC, 400960TN, 401652HL, 400758KP, 401968HL, 401318AV, 401825TH, 400076LC, 400800MW, 400006DK, 401981GF, 400978JG, 400524NJ, 400362TV, 400258BC, 401112LG, 400136DM, 401616WP, 400837HN, 401203MP, 400542EG, 400053LE, 400295PS, 400069CN, 401552BK, 401012TP, 400863SS, 401858TP, 4000046CJ, 401240ML, 401166WJ, 401143LK, 401056TJ, 401809FU, 401266HM, 400785AK, 400108BJ, 400213DB, 401969DR, 400300SD, 401066MM, 400234CA, 401068SD, 400269DA | | Known Genes | ASB9 | | 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) | esv3573597
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 93 | | Observed Complex | 0 | | Frequency | n/a |
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