Variant DetailsVariant: esv3577776 | Internal ID | 18359288 | | Landmark | | | Location Information | | | Cytoband | 1p36.12 | | Allele length | | Assembly | Allele length | | hg38 | 5285 | | hg19 | 5285 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | dgv24e212 | | Supporting Variants | essv9811311, essv9814310, essv9813977, essv9818088, essv9814088, essv9809421, essv9812200, essv9809643, essv9817532, essv9815755, essv9814422, essv9816532, essv9810310, essv9816644, essv9815866, essv9815533, essv9814866, essv9815644, essv9816088, essv9809310, essv9810421, essv9816199, essv9810643, essv9815421, essv9810754, essv9814533, essv9810199, essv9809532, essv9816866, essv9811200, essv9811644, essv9810865, essv9811755, essv9812755, essv9812866, essv9813644, essv9816977, essv9814199, essv9809977, essv9812977, essv9816755, essv9818199, essv9817866, essv9811422, essv9813199, essv9814644, essv9817088, essv9816310, essv9811533, essv9811977, essv9817199, essv9813866, essv9811089, essv9809754, essv9815977, essv9817755, essv9814977, essv9812644, essv9812533, essv9813755, essv9815310, essv9816421, essv9812311, essv9813533, essv9817421, essv9813088, essv9813422, essv9810532, essv9815199, essv9812088, essv9814755, essv9812422, essv9813311, essv9817977, essv9809865, essv9815088, essv9817643, essv9817310, essv9810088, essv9810976, essv9811866 | | Samples | 400128MJ, 401806DL, 400702PA, 400534ME, 400908PJ, 401942MP, 401258PC, 401067BD, 401275SJ, 400789KV, 401958MF, 401246HH, 401175FA, 400072GR, 400076LC, 400294HD, 400879DS, 400255CD, 401414CR, 400171BJ, 401176BD, 400983PV, 401027KW, 400269DA, 401428LD, 401869BG, 401057SS, 400572PJ, 401453OL, 401977ES, 401196CR, 401526WB, 402019MC, 40031BA, 401499JR, 401297KC, 401609MB, 400719TM, 402023EC, 400943DV, 401096SL, 400453LN, 400422PN, 401894PD, 400070PC, 401874DJ, 401259LS, 400914ER, 401250WD, 400178RH, 4000657TM, 401347DH, 400204SC, 400051MR, 400320RN, 400618GC, 402008MC, 401085LA, 400671PP, 400627CC, 401497PR, 401426WD, 401847RK, 401736BF, 400512LR, 400073HT, 401913GT, 400287BP, 401855RE, 401875FG, 400977SC, 400960TN, 402062KR, 400430KV, 400432VA, 400606HW, 401926MR, 400588BE, 401054VM, 400509CJ, 401369GR | | Known Genes | ALPL | | 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) | esv3577776
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 81 | | Observed Complex | 0 | | Frequency | n/a |
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