Variant DetailsVariant: dgv524e212![](http://dgv.tcag.ca/gb2/gbrowse_img/dgv2_hg38/?name=chr12:123614065..123625575;width=800;overview=1) Internal ID | 20148980 | Landmark | | Location Information | | Cytoband | 12q24.31 | Allele length | Assembly | Allele length | hg38 | 11511 | hg19 | 11511 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | esv3580513, esv3580512 | Samples | 401221LD, 401640WJ, 401518VK, 401468RL, 400059SV, 400643LD, 401402EN, 400558BL, 401308LD, 400893ZE, 401780BB, 401303FM, 400729HC, 401013GJ, 400352CA, 401085LA, 401714BM, 401210PB, 401519SA, 401444LD, 400603CJ, 401535RJ, 400837HN, 400454RE, 400053LE, 401016IT, 401844ZD, 401847RK, 401250WD, 401735LE, 400833BB, 400261RN, 400581VJ, 401453OL, 400209BS, 400540BM, 401993HM, 400255CD, 401497PR | Known Genes | DDX55, EIF2B1 | 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) | dgv524e212
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 39 | Observed Complex | 0 | Frequency | n/a |
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