Variant DetailsVariant: dgv2111e212 | Internal ID | 22785038 | | Landmark | | | Location Information | | | Cytoband | 8q24.11 | | Allele length | | Assembly | Allele length | | hg38 | 3530 | | hg19 | 3530 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | | | Supporting Variants | esv3572961, esv3572960, esv3572962 | | Samples | 401196CR, 400926LJ, 400619MP, 400917CG, 400132HN, 400377WJ, 400512LR, 401380OL, 400906BR, 400574MA, 401518VK, 401321CE, 400068PW, 401427CB, 401927SK, 401845MJ, 401384BP, 400625FT, 400553PP, 400199SA, 401674DD, 400509CJ, 401355CD, 400225CJ, 400558BL, 401634CH, 401064FR, 401869BG, 400134WK, 402038MR, 400583HS, 401664SD, 401104DM, 401596PJ, 401198TI, 400836LK, 401773AM, 402029KJ, 401406KF, 400763BT, 401505WI, 400738WM, 401591BE, 401870FB, 401939GD, 400791GC, 401210PB, 400093BL, 400375KA, 400076LC, 401730MS, 401326LI, 401506LK, 400800MW, 401711WS, 400999HR, 400450FG, 400695PH, 401359HF, 400454RE, 400542EG, 400483DP, 400158FB, 400053LE, 401016IT, 400156WT, 401881TJ, 400501SJ, 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) | dgv2111e212
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 83 | | Observed Complex | 0 | | Frequency | n/a |
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