Variant DetailsVariant: dgv1375e212 | Internal ID | 22784302 | | Landmark | | | Location Information | | | Cytoband | 3p21.1 | | Allele length | | Assembly | Allele length | | hg38 | 7482 | | hg19 | 7482 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | | | Supporting Variants | esv3568747, esv3568738, esv3568739, esv3568752, esv3568749, esv3568755, esv3568743, esv3568744, esv3568754, esv3568745, esv3568741, esv3568756, esv3568740, esv3568748, esv3568746, esv3568757 | | Samples | 400911GA, 401706BJ, 401366WD, 400908PJ, 400424LN, 401196CR, 401005BL, 400619MP, 400105BB, 401146US, 400455SJ, 401285HN, 401275SJ, 401734PG, 400572PJ, 400336BG, 401956DQ, 401673DM, 401380OL, 401972BA, 401415CB, 401117NA, 400272AE, 400866RR, 400068PW, 400506GN, 401899MB, 401457WK, 401931JL, 401442WR, 401856GC, 401845MJ, 401384BP, 400553PP, 401721CP, 401949MN, 401093VL, 401603HH, 401468RL, 400641WJ, 401674DD, 401368WR, 400545EW, 400493KH, 400937OR, 400658BW, 400360SM, 400155CW, 401258PC, 400893ZE, 401808PS, 402064DC, 401239PR, 400503HD, 400773GS, 401401BA, 400127MD, 401538NS, 400356MC, 401766MR, 401664SD, 400427SD, 401550SP, 401596PJ, 400374LB, 400206SC, 401532LJ, 401393JW, 400113LD, 400270BD, 400186WC, 400060MC, 401013GJ, 400763BT, 401726LW, 400825TW, 401085LA, 401900RJ, 400738WM, 400533BB, 400955BE, 400702PA, 400207HN, 400064WJ, 401357MH, 401119DK, 401526WB, 400758KP, 400829MR, 401879HJ, 401730MS, 401084BD, 400705KK, 400681MC, 402001SR, 400888MS, 401414CR, 400639RP, 400249BC, 400978JG, 400278PD, 401919MD, 400422PN, 401369GR, 401307VR, 400721DJ, 400450FG, 40050SB, 401176BD, 401112LG, 400329HJ, 400274TL, 400136DM, 400201PK, 401391PJ, 400451kh, 400542EG, 401898DS, 400158FB, 400845ML, 401847RK, 400295PS, 401693RC, 401287CF, 401661HD, 401413RG, 400859SC, 400312CR, 400072GR, 400996MC, 400044HS, 401215MJ, 400719TM, 401105WS, 400581VJ, 400209BS, 400164SS, 400890IT, 400238BB, 400942HR, 401068SD, 400982BS, 400269DA | | Known Genes | SFMBT1 | | 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) | dgv1375e212
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 143 | | Observed Complex | 0 | | Frequency | n/a |
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