Variant DetailsVariant: esv3572475Internal ID | 18353987 | Landmark | | Location Information | | Cytoband | 8p23.1 | Allele length | Assembly | Allele length | hg38 | 3646 | hg19 | 3646 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | dgv2029e212 | Supporting Variants | essv9786906, essv9786901, essv9786874, essv9786909, essv9786913, essv9786871, essv9786896, essv9786912, essv9786887, essv9786904, essv9786881, essv9786882, essv9786879, essv9786886, essv9786890, essv9786902, essv9786895, essv9786894, essv9786907, essv9786897, essv9786899, essv9786893, essv9786888, essv9786905, essv9786873, essv9786883, essv9786875, essv9786884, essv9786898, essv9786891, essv9786885, essv9786892, essv9786872, essv9786880, essv9786903, essv9786910, essv9786876, essv9786908, essv9786877, essv9786870 | Samples | 400316SL, 400920MK, 401673DM, 401503MJ, 400230TB, 401931JL, 400899NK, 400077EB, 401368WR, 400425SL, 400953MR, 401500OM, 401190WC, 401634CH, 400718PS, 400631SJ, 400134WK, 401252AE, 400032RC, 401646MC, 401027KW, 401834CB, 401210PB, 400122PL, 401075MN, 400888MS, 400387HE, 400047DS, 400854SG, 400319HT, 400611GG, 401182OC, 401410BJ, 400168HC, 401428LD, 400156WT, 400235MP, 401143LK, 400982BS, 401482CB | Known Genes | ANGPT2, MCPH1 | 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) | esv3572475
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 40 | Observed Complex | 0 | Frequency | n/a |
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