Variant DetailsVariant: esv3567954 | Internal ID | 18696152 | | Landmark | | | Location Information | | | Cytoband | 14q24.1 | | Allele length | | Assembly | Allele length | | hg38 | 6891 | | hg19 | 6891 |
| | Variant Type | CNV gain | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | dgv649e212 | | Supporting Variants | essv9806205, essv9806230, essv9806223, essv9806213, essv9806242, essv9806254, essv9806228, essv9806235, essv9806256, essv9806247, essv9806209, essv9806239, essv9806272, essv9806260, essv9806257, essv9806240, essv9806204, essv9806258, essv9806251, essv9806268, essv9806206, essv9806263, essv9806201, essv9806218, essv9806203, essv9806217, essv9806214, essv9806238, essv9806261, essv9806215, essv9806227, essv9806207, essv9806245, essv9806264, essv9806249, essv9806226, essv9806259, essv9806262, essv9806232, essv9806236, essv9806208, essv9806212, essv9806237, essv9806216, essv9806253, essv9806234, essv9806221, essv9806273, essv9806198, essv9806229, essv9806267, essv9806271, essv9806243, essv9806219, essv9806269, essv9806250, essv9806197, essv9806252, essv9806220, essv9806202, essv9806231, essv9806210, essv9806224, essv9806248, essv9806225, essv9806241, essv9806265, essv9806196, essv9806246, essv9806270 | | Samples | 400911GA, 401420PJ, 400364SS, 400145BL, 400789KV, 400455SJ, 400132HN, 401769CR, 40031BA, 401380OL, 400622SJ, 401911FL, 400574MA, 400595CP, 401721CP, 401820SD, 400340CD, 401426WD, 400486LS, 401253MC, 401936BA, 401551MB, 401860TJ, 400227MM, 400051MR, 401006ES, 400503HD, 400022WA, 400460DM, 401566DD, 400121PL, 400292LP, 401838EN, 401620BA, 400218WK, 400002HK, 401050GS, 401251WN, 400110MD, 400702PA, 400783MJ, 401853WR, 401526WB, 400381CA, 401586RS, 401333MM, 401859GS, 401504RJ, 401606CG, 402054BD, 401443JK, 400869BK, 401259LS, 401176BD, 401359HF, 400943DV, 401361GG, 400168HC, 401203MP, 400845ML, 401054VM, 401265CB, 400044HS, 400792RE, 401543DC, 401781SL, 400178RH, 400164SS, 401510DG, 400532MH | | Known Genes | RAD51B | | 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) | esv3567954
| | Frequency | | Sample Size | 873 | | Observed Gain | 70 | | Observed Loss | 0 | | Observed Complex | 0 | | Frequency | n/a |
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