Variant DetailsVariant: dgv516e212 | Internal ID | 20148972 | | Landmark | | | Location Information | | | Cytoband | 12q24.21 | | Allele length | | Assembly | Allele length | | hg38 | 3910 | | hg19 | 3910 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | | | Supporting Variants | esv3580474, esv3580475, esv3580473 | | Samples | 401033DJ, 400063BR, 400802DP, 400105BB, 401400NP, 401235IA, 401079HJ, 401931JL, 400629BM, 401949MN, 401434VN, 400059SV, 401674DD, 400486LS, 400441GS, 401308LD, 402016HZ, 401990PR, 401173AI, 400627CC, 400882DD, 401908YM, 402038MR, 400033KC, 401550SP, 400344DR, 401238QR, 400198MD, 400041LJ, 401977ES, 401732HW, 400577MK, 401331LJ, 400974PS, 400738WM, 400236DB, 401084TD, 401230NL, 401853WR, 401804FG, 401862AN, 400994HJ, 401864CV, 401813DN, 401762SD, 400050RL, 402022SM, 400006DK, 400886MP, 401414CR, 401889FR, 400278PD, 402074RR, 400354TJ, 401410BJ, 401914PR, 400136DM, 400818BL, 400837HN, 400454RE, 401595BL, 401203MP, 400103BN, 401844ZD, 401611CD, 401552BK, 401571SD, 400859SC, 400328LM, 401152MV, 401809FU, 401372RR, 401817MC, 401354KM, 400315DA, 401836SI, 400291VJ, 401053MF, 400300SD, 400890IT, 400255CD, 401246HH | | Known Genes | | | 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) | dgv516e212
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 82 | | Observed Complex | 0 | | Frequency | n/a |
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