Variant DetailsVariant: esv3567987 | Internal ID | 18696185 | | Landmark | | | Location Information | | | Cytoband | 14q24.1 | | Allele length | | Assembly | Allele length | | hg38 | 7525 | | hg19 | 7525 |
| | Variant Type | CNV gain | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | dgv649e212 | | Supporting Variants | essv9806172, essv9806128, essv9806130, essv9806187, essv9806125, essv9806154, essv9806183, essv9806161, essv9806150, essv9806114, essv9806165, essv9806178, essv9806116, essv9806184, essv9806134, essv9806146, essv9806113, essv9806181, essv9806174, essv9806179, essv9806141, essv9806099, essv9806123, essv9806140, essv9806108, essv9806138, essv9806106, essv9806139, essv9806158, essv9806151, essv9806136, essv9806152, essv9806118, essv9806143, essv9806105, essv9806107, essv9806104, essv9806182, essv9806127, essv9806194, essv9806190, essv9806137, essv9806119, essv9806160, essv9806159, essv9806191, essv9806124, essv9806164, essv9806171, essv9806193, essv9806120, essv9806110, essv9806186, essv9806126, essv9806117, essv9806169, essv9806149, essv9806168, essv9806135, essv9806163, essv9806101, essv9806153, essv9806145, essv9806162, essv9806173, essv9806175, essv9806170, essv9806189, essv9806129, essv9806167, essv9806131, essv9806180, essv9806192, essv9806185, essv9806132, essv9806176, essv9806102, essv9806109, essv9806121, essv9806148, essv9806157, essv9806103, essv9806147, essv9806142, essv9806115, essv9806112, essv9806195, essv9806156 | | Samples | 401459HF, 400920MK, 401706BJ, 401033DJ, 400649PS, 401465TB, 400268SY, 400821FE, 400572PJ, 401966SR, 400852WJ, 400625FT, 400897MD, 400059SV, 400509CJ, 400191MP, 400225CJ, 400493KH, 400245SJ, 401990PR, 401924ST, 401808PS, 400600DP, 402012RR, 400320RN, 401538NS, 401832MC, 400427SD, 401831TW, 400338SR, 400341GL, 400717BD, 402056KD, 402029KJ, 401393JW, 400507VD, 400109LJ, 401739BJ, 400793BR, 401900RJ, 401714BM, 401655DC, 401499JR, 401540NA, 401230NL, 400660GK, 400240HJ, 401119DK, 401185LE, 401864CV, 401630MK, 400124FR, 400171BJ, 401087SF, 400886MP, 402074RR, 401200BD, 400520FM, 401307VR, 400999HR, 400721DJ, 400611GG, 400474GF, 401182OC, 400430KV, 400177CG, 400136DM, 401057SS, 400728PB, 400732MA, 401898DS, 401295HB, 400759FV, 400235MP, 401149VA, 400859SC, 401797LS, 401358VP, 401912HD, 401554VN, 401177SL, 401458RT, 400213DB, 401153HS, 401453OL, 400150SS, 401576WC, 402024BB | | 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) | esv3567987
| | Frequency | | Sample Size | 873 | | Observed Gain | 88 | | Observed Loss | 0 | | Observed Complex | 0 | | Frequency | n/a |
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