Variant DetailsVariant: esv3573010 | Internal ID | 18701208 | | Landmark | | | Location Information | | | Cytoband | 8q24.23 | | Allele length | | Assembly | Allele length | | hg38 | 184540 | | hg19 | 184540 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | dgv2117e212 | | Supporting Variants | essv9789941, essv9789923, essv9789943, essv9789937, essv9789954, essv9789950, essv9789928, essv9789940, essv9789946, essv9789956, essv9789947, essv9789925, essv9789949, essv9789934, essv9789948, essv9789931, essv9789958, essv9789936, essv9789959, essv9789926, essv9789932, essv9789951, essv9789952, essv9789938, essv9789962, essv9789942, essv9789935, essv9789929, essv9789939, essv9789953, essv9789930, essv9789945, essv9789924, essv9789957, essv9789961, essv9789927, essv9789960 | | Samples | 400984LD, 401221LD, 401196CR, 400455SJ, 401077VC, 401380OL, 400468OB, 400683EC, 400230TB, 400141CC, 401783BD, 400797ST, 401792KR, 400583HS, 400292LP, 401838EN, 401532LJ, 400717BD, 400198MD, 400060MC, 400413FJ, 401691HA, 400236DB, 401853WR, 401862AN, 401729AC, 401580CA, 400319HT, 400837HN, 401881TJ, 400323AA, 401763SG, 401681MS, 400130HA, 400079AP, 401207DA, 401497PR | | Known Genes | | | 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) | esv3573010
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 37 | | Observed Complex | 0 | | Frequency | n/a |
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