Variant DetailsVariant: esv3572960 | Internal ID | 18701158 | | Landmark | | | Location Information | | | Cytoband | 8q24.11 | | Allele length | | Assembly | Allele length | | hg38 | 3497 | | hg19 | 3497 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | dgv2111e212 | | Supporting Variants | essv9789798, essv9789782, essv9789752, essv9789795, essv9789780, essv9789764, essv9789726, essv9789763, essv9789743, essv9789748, essv9789770, essv9789758, essv9789728, essv9789729, essv9789786, essv9789796, essv9789742, essv9789805, essv9789757, essv9789740, essv9789791, essv9789731, essv9789725, essv9789759, essv9789751, essv9789799, essv9789777, essv9789779, essv9789774, essv9789781, essv9789771, essv9789766, essv9789783, essv9789788, essv9789730, essv9789749, essv9789739, essv9789721, essv9789776, essv9789737, essv9789801, essv9789724, essv9789804, essv9789787, essv9789727, essv9789747, essv9789750, essv9789753, essv9789794, essv9789741, essv9789734, essv9789802, essv9789769, essv9789736, essv9789765, essv9789760, essv9789797, essv9789793, essv9789775, essv9789735, essv9789784, essv9789773, essv9789745, essv9789754, essv9789761, essv9789768, essv9789790, essv9789732, essv9789738, essv9789772, essv9789762, essv9789723, essv9789792, essv9789785, essv9789746, essv9789803 | | Samples | 401196CR, 400926LJ, 400619MP, 400917CG, 400132HN, 400377WJ, 400512LR, 401380OL, 400906BR, 400574MA, 401518VK, 401321CE, 400068PW, 401427CB, 401927SK, 401845MJ, 401384BP, 400625FT, 400553PP, 400199SA, 401355CD, 400225CJ, 400558BL, 401634CH, 401869BG, 402038MR, 400583HS, 401664SD, 401104DM, 401596PJ, 401198TI, 400836LK, 401773AM, 402029KJ, 401406KF, 400763BT, 401505WI, 400738WM, 401591BE, 401870FB, 401939GD, 400791GC, 400375KA, 400076LC, 401730MS, 401326LI, 401506LK, 400800MW, 401711WS, 400999HR, 400450FG, 400695PH, 401359HF, 400454RE, 400542EG, 400483DP, 400158FB, 400053LE, 401016IT, 400156WT, 401881TJ, 401438HT, 401858TP, 4000046CJ, 401152MV, 400271SR, 400106PC, 401105WS, 401040KM, 400508RD, 400261RN, 400291VJ, 401993HM, 400152MR, 400494ML, 400704LC | | Known Genes | EXT1 | | 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) | esv3572960
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 76 | | Observed Complex | 0 | | Frequency | n/a |
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