Variant DetailsVariant: dgv655e212 | Internal ID | 22783582 | | Landmark | | | Location Information | | | Cytoband | 14q24.3 | | Allele length | | Assembly | Allele length | | hg38 | 35274 | | hg19 | 35274 |
| | Variant Type | CNV gain | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | | | Supporting Variants | esv3568032, esv3568043, esv3568121, esv3568098, esv3568087, esv3568021, esv3568165, esv3568254 | | Samples | 400316SL, 400063BR, 400926LJ, 400439IM, 401005BL, 400876OG, 401330RR, 401299ST, 400655WB, 401249TP, 401195PN, 401096SL, 401733CG, 401434VN, 400347VJ, 400298ME, 401687LR, 401780BB, 401113MJ, 400061DE, 401832MC, 400032RC, 400353ML, 400609FJ, 400836LK, 401791FG, 400186WC, 401739BJ, 400825TW, 400974PS, 401499JR, 400977SC, 402052ZA, 400240HJ, 400285FA, 401119DK, 400496BL, 401862AN, 401630MK, 401506LK, 400124FR, 400686BM, 402022SM, 400854SG, 401875FG, 400422PN, 401580CA, 401200BD, 400354TJ, 401514BA, 401182OC, 400518MS, 401334DH, 400624RJ, 400542EG, 401428LD, 401365DJ, 401268PS, 401287CF, 401861GG, 400996MC, 4000046CJ, 401056TJ, 401829FJ, 401354KM, 401177SL, 401040KM, 400581VJ, 400079AP, 401053MF, 400234CA, 401497PR, 401362ME | | Known Genes | ACOT1, HEATR4 | | 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) | dgv655e212
| | Frequency | | Sample Size | 873 | | Observed Gain | 73 | | Observed Loss | 0 | | Observed Complex | 0 | | Frequency | n/a |
|
|
