Variant DetailsVariant: esv3575602 | Internal ID | 18703800 | | Landmark | | | Location Information | | | Cytoband | 3q21.3 | | Allele length | | Assembly | Allele length | | hg38 | 31771 | | hg19 | 31771 |
| | Variant Type | CNV gain | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | dgv1407e212 | | Supporting Variants | essv9768206, essv9768241, essv9768215, essv9768193, essv9768197, essv9768186, essv9768239, essv9768195, essv9768220, essv9768218, essv9768214, essv9768219, essv9768213, essv9768248, essv9768238, essv9768191, essv9768240, essv9768229, essv9768205, essv9768246, essv9768237, essv9768228, essv9768225, essv9768208, essv9768236, essv9768243, essv9768202, essv9768222, essv9768247, essv9768196, essv9768217, essv9768235, essv9768216, essv9768198, essv9768242, essv9768233, essv9768207, essv9768203, essv9768209, essv9768232, essv9768224, essv9768221, essv9768204, essv9768199, essv9768211, essv9768244, essv9768231, essv9768230, essv9768192, essv9768190, essv9768194, essv9768226, essv9768210, essv9768227, essv9768188, essv9768187 | | Samples | 401497PR, 401021SC, 400920MK, 400927BD, 400880TM, 400534ME, 401385BB, 400572PJ, 401487FW, 400512LR, 401460LW, 401503MJ, 401742KB, 402067KS, 401330RR, 401491BB, 400899NK, 401820SD, 400897MD, 401824MM, 400425SL, 401582GG, 402016HZ, 400438DB, 401297KC, 401842BJ, 400482MD, 400460DM, 401832MC, 401104DM, 401739BJ, 401234MB, 401617KM, 400660GK, 401419SW, 400124FR, 401504RJ, 401606CG, 401478RD, 401444LD, 401892MJ, 400274TL, 400454RE, 401277RA, 401661HD, 401438HT, 400312CR, 400996MC, 401135CS, 401763SG, 401829FJ, 401728WK, 400108BJ, 400581VJ, 400300SD, 401111LH | | 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) | esv3575602
| | Frequency | | Sample Size | 873 | | Observed Gain | 56 | | Observed Loss | 0 | | Observed Complex | 0 | | Frequency | n/a |
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