Variant DetailsVariant: esv3582012 Internal ID | 18363524 | Landmark | | Location Information | | Cytoband | 16p13.12 | Allele length | Assembly | Allele length | hg38 | 4367 | hg19 | 4367 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | essv9809956, essv9809958, essv9809983, essv9809980, essv9809942, essv9809963, essv9809964, essv9809961, essv9809984, essv9809970, essv9809967, essv9809959, essv9809972, essv9809952, essv9809962, essv9809944, essv9809985, essv9809953, essv9809968, essv9809955, essv9809979, essv9809981, essv9809973, essv9809960, essv9809947, essv9809969, essv9809975, essv9809951, essv9809957, essv9809982, essv9809945, essv9809948, essv9809946, essv9809986, essv9809966, essv9809974, essv9809971, essv9809949, essv9809950 | Samples | 400649PS, 400570RW, 400432VA, 400889CM, 401415CB, 400230TB, 400956AM, 401442WR, 400545EW, 401030GI, 400627CC, 401926MR, 401860TJ, 401550SP, 401133JG, 401353BC, 401873BK, 400825TW, 401397WN, 401540NA, 401210PB, 401862AN, 401423BA, 401618HR, 401084BD, 401262RR, 400854SG, 400362TV, 400624RJ, 400722OM, 400053LE, 400328LM, 401240ML, 401215MJ, 401105WS, 401735LE, 400213DB, 400300SD, 400238BB | Known Genes | SHISA9 | 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) | esv3582012
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 39 | Observed Complex | 0 | Frequency | n/a |
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