Variant DetailsVariant: dgv2029e212Internal ID | 20150485 | Landmark | | Location Information | | Cytoband | 8p23.1 | Allele length | Assembly | Allele length | hg38 | 3661 | hg19 | 3661 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | esv3572477, esv3572474, esv3572475 | Samples | 401459HF, 400316SL, 400920MK, 400554WB, 401673DM, 401503MJ, 400230TB, 401931JL, 400899NK, 400077EB, 400641WJ, 401368WR, 400425SL, 400953MR, 401500OM, 401190WC, 401634CH, 400718PS, 400631SJ, 400134WK, 401252AE, 400032RC, 401646MC, 401027KW, 401834CB, 401357MH, 401210PB, 400122PL, 401075MN, 400888MS, 400387HE, 400047DS, 400854SG, 401587RC, 400319HT, 400611GG, 401182OC, 401410BJ, 400168HC, 401428LD, 400156WT, 400235MP, 400328LM, 401143LK, 401510DG, 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) | dgv2029e212
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 47 | Observed Complex | 0 | Frequency | n/a |
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