Variant DetailsVariant: dgv24e212 Internal ID | 20148480 | Landmark | | Location Information | | Cytoband | 1p36.12 | Allele length | Assembly | Allele length | hg38 | 7347 | hg19 | 7347 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | esv3577779, esv3577776, esv3577777, esv3577778 | Samples | 400269DA, 401497PR, 400287BP, 401806DL, 400908PJ, 400618GC, 401196CR, 400204SC, 400534ME, 400789KV, 400432VA, 401275SJ, 400572PJ, 40031BA, 400512LR, 400294HD, 401415CB, 401721CP, 401096SL, 401426WD, 400509CJ, 400453LN, 401258PC, 402019MC, 402062KR, 400627CC, 400606HW, 401926MR, 401297KC, 400051MR, 401869BG, 400588BE, 400073HT, 400320RN, 401855RE, 401609MB, 401234MB, 401977ES, 400983PV, 401347DH, 401175FA, 401085LA, 401027KW, 401499JR, 400070PC, 401736BF, 400702PA, 401913GT, 400977SC, 400960TN, 400496BL, 401526WB, 400914ER, 400076LC, 4000657TM, 401942MP, 400171BJ, 400886MP, 401414CR, 401067BD, 401875FG, 400422PN, 401369GR, 401874DJ, 401259LS, 401176BD, 400430KV, 400943DV, 401057SS, 400454RE, 400671PP, 401428LD, 401268PS, 401847RK, 401958MF, 401894PD, 401054VM, 400235MP, 400128MJ, 400072GR, 402008MC, 400719TM, 400879DS, 401543DC, 401250WD, 402023EC, 400178RH, 401453OL, 400890IT, 400255CD, 401246HH | 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) | dgv24e212
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 91 | Observed Complex | 0 | Frequency | n/a |
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