Variant DetailsVariant: esv3576654 | Internal ID | 18358166 | | Landmark | | | Location Information | | | Cytoband | 9q21.11 | | Allele length | | Assembly | Allele length | | hg38 | 5860 | | hg19 | 5860 |
| | Variant Type | CNV gain | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | dgv2154e212 | | Supporting Variants | essv9790963, essv9790953, essv9790967, essv9790987, essv9790961, essv9790973, essv9790970, essv9790930, essv9790984, essv9790929, essv9790981, essv9790939, essv9790943, essv9790960, essv9790975, essv9791007, essv9790950, essv9790952, essv9790945, essv9790980, essv9790940, essv9791002, essv9790993, essv9790986, essv9790935, essv9790937, essv9790934, essv9791004, essv9790988, essv9790965, essv9790936, essv9790946, essv9790949, essv9790979, essv9790972, essv9791006, essv9790923, essv9790992, essv9790951, essv9790982, essv9790928, essv9790956, essv9791003, essv9790925, essv9790983, essv9790999, essv9790971, essv9791005, essv9790995, essv9790985, essv9790968, essv9790991, essv9790998, essv9790964, essv9791009, essv9790962, essv9791001, essv9790990, essv9790958, essv9790954, essv9790996, essv9790920, essv9790948, essv9790924, essv9790941, essv9790997, essv9790947, essv9790969, essv9791008 | | Samples | 400739SS, 400105BB, 401146US, 400876OG, 400626FC, 400429YF, 401330RR, 401491BB, 400325BE, 401096SL, 401603HH, 401402EN, 400425SL, 401030GI, 400347VJ, 400523GB, 402016HZ, 400627CC, 401780BB, 400307HW, 400564SN, 401994BD, 400344DR, 400341GL, 401234MB, 401873BK, 400615RI, 400302HW, 400007RG, 401437MJ, 401477ST, 400702PA, 401863BD, 401432SB, 401119DK, 401813DN, 401942MP, 400705KK, 401444LD, 400524NJ, 400450FG, 401884WJ, 401359HF, 400542EG, 400483DP, 400601WC, 401365DJ, 401025SM, 401288LD, 401012TP, 401894PD, 401786WD, 400996MC, 401143LK, 401372RR, 401135CS, 401763SG, 400271SR, 401105WS, 401266HM, 401607LL, 400084DM, 402042BJ, 400661AD, 401066MM, 400138LA, 401490TL, 401482CB, 400801HS | | Known Genes | TJP2 | | 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) | esv3576654
| | Frequency | | Sample Size | 873 | | Observed Gain | 69 | | Observed Loss | 0 | | Observed Complex | 0 | | Frequency | n/a |
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