Variant DetailsVariant: esv3578620 | Internal ID | 18706818 | | Landmark | | | Location Information | | | Cytoband | 10p14 | | Allele length | | Assembly | Allele length | | hg38 | 6249 | | hg19 | 6249 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | dgv174e212 | | Supporting Variants | essv9792170, essv9792174, essv9792169, essv9792186, essv9792205, essv9792167, essv9792184, essv9792185, essv9792192, essv9792164, essv9792183, essv9792172, essv9792206, essv9792165, essv9792168, essv9792191, essv9792190, essv9792187, essv9792196, essv9792197, essv9792171, essv9792182, essv9792194, essv9792193, essv9792189, essv9792173, essv9792198, essv9792175, essv9792179, essv9792176, essv9792204, essv9792202, essv9792178, essv9792195, essv9792180, essv9792203, essv9792181 | | Samples | 401191MI, 400987FB, 400439IM, 401005BL, 400336BG, 401235IA, 400068PW, 401427CB, 401457WK, 401096SL, 400425SL, 400245SJ, 400241CP, 402019MC, 402064DC, 400061DE, 401766MR, 401038LN, 400333CC, 400341GL, 400442FE, 401050GS, 401397WN, 401091HS, 400702PA, 401348RB, 401968HL, 400686BM, 402001SR, 400603CJ, 401369GR, 401012TP, 400586RD, 401797LS, 400785AK, 401066MM, 400923OA | | Known Genes | | | 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) | esv3578620
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 37 | | Observed Complex | 0 | | Frequency | n/a |
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