Variant DetailsVariant: esv3582402 | Internal ID | 18363914 | | Landmark | | | Location Information | | | Cytoband | 16q23.3 | | Allele length | | Assembly | Allele length | | hg38 | 2250 | | hg19 | 2250 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | dgv868e212 | | Supporting Variants | essv9812014, essv9812005, essv9811998, essv9812010, essv9812020, essv9811996, essv9812019, essv9812013, essv9811987, essv9811991, essv9812002, essv9812003, essv9811997, essv9812021, essv9811990, essv9811999, essv9812006, essv9812017, essv9811986, essv9812016, essv9812015, essv9811993, essv9811992, essv9812007, essv9812009, essv9811988, essv9811994, essv9812012, essv9812026, essv9812023, essv9811995, essv9812018, essv9812024, essv9812004, essv9812025, essv9812008, essv9812001 | | Samples | 401021SC, 401110GJ, 400063BR, 401052BM, 400132HN, 400876OG, 400970VE, 400083TG, 400506GN, 401899MB, 400077EB, 400379BB, 400893ZE, 401006ES, 401566DD, 401495NR, 402029KJ, 400186WC, 401192MJ, 400038CK, 401714BM, 400791GC, 401210PB, 400381CA, 401618HR, 400888MS, 401875FG, 401039PA, 401369GR, 401496SL, 400376SJ, 400235MP, 401143LK, 400084DM, 401177SL, 400238BB, 401517PR | | Known Genes | CDH13 | | 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) | esv3582402
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 37 | | Observed Complex | 0 | | Frequency | n/a |
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