Variant DetailsVariant: dgv431e212 | Internal ID | 20148887 | | Landmark | | | Location Information | | | Cytoband | 12p13.33 | | Allele length | | Assembly | Allele length | | hg38 | 9614 | | hg19 | 9614 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | | | Supporting Variants | esv3580011, esv3580016, esv3580014, esv3580017 | | Samples | 400599CP, 400364SS, 400619MP, 401052BM, 400572PJ, 400336BG, 401769CR, 401077VC, 400101EH, 401460LW, 401074CM, 401415CB, 400956AM, 401841OB, 401403TD, 401927SK, 401698SB, 401468RL, 401674DD, 401426WD, 400797ST, 401536BD, 401022ML, 400493KH, 400620MT, 401253MC, 400241CP, 401132CH, 401936BA, 400528LR, 401975VD, 401926MR, 400675HC, 400743LS, 401687LR, 401869BG, 400600DP, 400022WA, 400583HS, 400338SR, 400836LK, 401994BD, 400341GL, 402056KD, 400729HC, 401791FG, 400218WK, 400002HK, 400413FJ, 401873BK, 400983PV, 400763BT, 401870FB, 400870KC, 401853WR, 400960TN, 401185LE, 401519SA, 400082SD, 401864CV, 401879HJ, 401730MS, 401630MK, 401619BT, 400888MS, 400886MP, 401414CR, 400371GA, 400278PD, 400520FM, 401112LG, 400474GF, 400430KV, 400177CG, 400818BL, 401203MP, 400053LE, 400246MG, 401847RK, 400410CD, 400971MK, 400586RD, 401861GG, 400044HS, 400930MK, 401797LS, 400271SR, 401105WS, 401607LL, 400084DM, 401458RT, 400300SD, 401395OP | | Known Genes | WNK1 | | 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) | dgv431e212
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 93 | | Observed Complex | 0 | | Frequency | n/a |
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