Variant DetailsVariant: esv3568693 | Internal ID | 18696891 | | Landmark | | | Location Information | | | Cytoband | 3p22.2 | | Allele length | | Assembly | Allele length | | hg38 | 9514 | | hg19 | 9514 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | dgv1368e212 | | Supporting Variants | essv9837818, essv9766661, essv9766674, essv9766671, essv9837810, essv9837797, essv9766687, essv9766652, essv9837819, essv9766653, essv9837775, essv9766666, essv9766680, essv9837785, essv9766677, essv9766654, essv9837806, essv9837801, essv9837769, essv9766650, essv9766659, essv9766689, essv9837786, essv9766686, essv9837795, essv9837772, essv9837766, essv9837800, essv9837757, essv9766658, essv9766665, essv9837753, essv9837761, essv9766656, essv9766669, essv9837792, essv9837756, essv9837802, essv9837783, essv9837790, essv9837764, essv9837811, essv9837760, essv9837777, essv9837816, essv9837770, essv9837763, essv9766662, essv9837803, essv9766681, essv9837814, essv9766685, essv9837773, essv9837752, essv9837807, essv9837804, essv9837808, essv9766676, essv9837813, essv9837779, essv9766651, essv9766655, essv9766648, essv9766673, essv9837799, essv9837789, essv9766664, essv9766647, essv9837805, essv9837796, essv9837778, essv9837793, essv9766660, essv9837794, essv9837815, essv9837767, essv9837817, essv9837782, essv9766682, essv9837759, essv9837768, essv9837755, essv9766691, essv9766678, essv9766670, essv9837788, essv9837780, essv9837812, essv9837771, essv9837774, essv9766684, essv9766683, essv9837762, essv9766675, essv9766688, essv9766649, essv9837791, essv9837781, essv9766672, essv9837758, essv9837784, essv9766667, essv9766663 | | Samples | 401102RD, 400287BP, 400911GA, 400075MR, 400359OR, 401020DJ, 400649PS, 400364SS, 401212HJ, 400534ME, 401640WJ, 400789KV, 401986LC, 400821FE, 400917CG, 400594VJ, 400094RS, 40031BA, 401673DM, 401380OL, 400626FC, 400429YF, 400506GN, 401384BP, 400899NK, 401824MM, 401434VN, 400277LM, 400948EV, 401402EN, 400425SL, 400620MT, 400658BW, 400558BL, 400241CP, 400360SM, 401390DG, 400674CA, 400343BD, 400688FL, 400231LP, 401401BA, 400307HW, 400871CM, 401104DM, 400206SC, 400564SN, 401495NR, 401029SD, 400270BD, 400198MD, 400002HK, 400763BT, 401347DH, 401726LW, 401725MR, 401437MJ, 401499JR, 401274PA, 402033WD, 400768MN, 401125LM, 401357MH, 400285FA, 401526WB, 400967PK, 400375KA, 401318AV, 400994HJ, 401864CV, 401618HR, 401859GS, 401730MS, 401506LK, 401075MN, 401087SF, 400869BK, 401884WJ, 401696CG, 401259LS, 40050SB, 401922MW, 400030WD, 400454RE, 400728PB, 400624RJ, 400168HC, 401203MP, 400601WC, 402009WP, 401881TJ, 400501SJ, 400996MC, 401215MJ, 400719TM, 401817MC, 402023EC, 400266BA, 400213DB, 401341TS, 400012CJ, 401517PR, 401111LH | | Known Genes | CTDSPL | | 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) | esv3568693
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 103 | | Observed Complex | 0 | | Frequency | n/a |
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