Variant DetailsVariant: esv3577438 Internal ID | 18358950 | Landmark | | Location Information | | Cytoband | 10q22.3 | Allele length | Assembly | Allele length | hg38 | 8917 | hg19 | 8917 |
| Variant Type | CNV gain | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | dgv253e212 | Supporting Variants | essv9794162, essv9794154, essv9794171, essv9794156, essv9794152, essv9794158, essv9794173, essv9794163, essv9794169, essv9794164, essv9794165, essv9794170, essv9794161, essv9794159, essv9794168, essv9794167, essv9794157, essv9794172, essv9794153, essv9794160 | Samples | 400911GA, 400534ME, 400802DP, 401385BB, 401151RJ, 401918CA, 400937OR, 400148MS, 400478WE, 401234MB, 400929MM, 401726LW, 400352CA, 400955BE, 401587RC, 400571WV, 401914PR, 400586RD, 401458RT, 401068SD | Known Genes | C10orf11 | 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) | esv3577438
| Frequency | Sample Size | 873 | Observed Gain | 20 | Observed Loss | 0 | Observed Complex | 0 | Frequency | n/a |
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