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 | essv9809983, essv9809946, essv9809963, essv9809984, essv9809975, essv9809952, essv9809942, essv9809982, essv9809971, essv9809979, essv9809958, essv9809985, essv9809955, essv9809970, essv9809966, essv9809972, essv9809964, essv9809947, essv9809981, essv9809968, essv9809980, essv9809986, essv9809956, essv9809961, essv9809969, essv9809959, essv9809967, essv9809973, essv9809950, essv9809949, essv9809948, essv9809960, essv9809962, essv9809944, essv9809951, essv9809953, essv9809974, essv9809957, essv9809945 | | Samples | 400238BB, 400300SD, 400545EW, 401105WS, 401735LE, 400649PS, 400956AM, 401262RR, 401030GI, 400362TV, 400213DB, 401397WN, 401210PB, 400854SG, 401442WR, 401423BA, 400053LE, 401873BK, 400722OM, 401240ML, 401540NA, 401550SP, 400230TB, 401084BD, 401618HR, 400825TW, 400627CC, 401215MJ, 401133JG, 401415CB, 401860TJ, 400624RJ, 400328LM, 400432VA, 401862AN, 401926MR, 400889CM, 401353BC, 400570RW | | 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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