Variant DetailsVariant: esv3568738 | Internal ID | 18696936 | | 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 | dgv1375e212 | | Supporting Variants | essv9766981, essv9766977, essv9767004, essv9766976, essv9767002, essv9766998, essv9766982, essv9766992, essv9766999, essv9767003, essv9767013, essv9766972, essv9766987, essv9767007, essv9767008, essv9767006, essv9767000, essv9766989, essv9766980, essv9766993, essv9767009, essv9766984, essv9766988, essv9767011, essv9766994, essv9766974, essv9766986, essv9766991, essv9767010, essv9766983, essv9766997, essv9766975, essv9766996, essv9767005, essv9766973, essv9766985, essv9766995 | | Samples | 400619MP, 400572PJ, 401415CB, 401899MB, 401384BP, 400553PP, 401603HH, 400641WJ, 401674DD, 401808PS, 400127MD, 401538NS, 401766MR, 401664SD, 401596PJ, 400186WC, 401013GJ, 400763BT, 401085LA, 400207HN, 401119DK, 401526WB, 400758KP, 401879HJ, 401730MS, 400705KK, 400639RP, 400721DJ, 401112LG, 400329HJ, 401391PJ, 400845ML, 401847RK, 400996MC, 400581VJ, 400209BS, 400942HR | | 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) | esv3568738
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 37 | | Observed Complex | 0 | | Frequency | n/a |
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