Variant DetailsVariant: esv3574239 | Internal ID | 18702437 | | Landmark | | | Location Information | | | Cytoband | Xq21.33 | | Allele length | | Assembly | Allele length | | hg38 | 10923 | | hg19 | 10923 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | | | Supporting Variants | essv9827775, essv9827762, essv9827731, essv9827779, essv9827752, essv9827745, essv9827764, essv9827796, essv9827758, essv9827791, essv9827759, essv9827742, essv9827790, essv9827777, essv9827795, essv9827787, essv9827723, essv9827780, essv9827736, essv9827792, essv9827751, essv9827737, essv9827749, essv9827766, essv9827730, essv9827728, essv9827726, essv9827741, essv9827782, essv9827765, essv9827747, essv9827760, essv9827734, essv9827770, essv9827744, essv9827729, essv9827725, essv9827748, essv9827794, essv9827746, essv9827735, essv9827772, essv9827783, essv9827750, essv9827757, essv9827784, essv9827727, essv9827733, essv9827786, essv9827776, essv9827785, essv9827781, essv9827740, essv9827793, essv9827724, essv9827774, essv9827739, essv9827788, essv9827753, essv9827761, essv9827768, essv9827738, essv9827773, essv9827763, essv9827771, essv9827769 | | Samples | 401292ER, 401162TM, 400984LD, 401640WJ, 400455SJ, 401592NR, 401962BK, 400683EC, 400272AE, 400995MS, 401841OB, 400068PW, 401183HP, 401927SK, 401733CG, 400948EV, 400225CJ, 400486LS, 401064FR, 400743LS, 401113MJ, 400148MS, 400022WA, 400460DM, 401538NS, 400121PL, 401104DM, 400333CC, 400843FL, 400763BT, 400352CA, 400007RG, 400533BB, 401274PA, 400791GC, 400064WJ, 401652HL, 401278DM, 401519SA, 401968HL, 401326LI, 401813DN, 400800MW, 400524NJ, 400354TJ, 401182OC, 400518MS, 400177CG, 401677MM, 401334DH, 400837HN, 400728PB, 400722OM, 400053LE, 401012TP, 401054VM, 400128MJ, 400769SL, 400328LM, 401681MS, 401040KM, 400261RN, 401836SI, 400178RH, 401480PG, 400704LC | | Known Genes | | | 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) | esv3574239
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 66 | | Observed Complex | 0 | | Frequency | n/a |
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