Variant DetailsVariant: esv3580774 | Internal ID | 18708972 | | Landmark | | | Location Information | | | Cytoband | 13q31.1 | | Allele length | | Assembly | Allele length | | hg38 | 2404 | | hg19 | 2404 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | | | Supporting Variants | essv9803853, essv9803839, essv9803840, essv9803871, essv9803847, essv9803831, essv9803836, essv9803861, essv9803834, essv9803858, essv9803862, essv9803868, essv9803852, essv9803859, essv9803850, essv9803837, essv9803860, essv9803869, essv9803842, essv9803856, essv9803864, essv9803851, essv9803835, essv9803848, essv9803838, essv9803857, essv9803841, essv9803870, essv9803863, essv9803832, essv9803865, essv9803846, essv9803849, essv9803845, essv9803854, essv9803843 | | Samples | 400801HS, 400287BP, 401110GJ, 401005BL, 400802DP, 400917CG, 400683EC, 401117NA, 400934LA, 401136LB, 400298ME, 400773GS, 400073HT, 401165SB, 401831TW, 401791FG, 401353BC, 401739BJ, 400383HL, 401091HS, 401623SN, 401318AV, 401762SD, 400844GP, 401892MJ, 401580CA, 400354TJ, 400136DM, 400624RJ, 401277RA, 400863SS, 401786WD, 400205SP, 401763SG, 401681MS, 401354KM | | Known Genes | RNF219 | | 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) | esv3580774
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 36 | | Observed Complex | 0 | | Frequency | n/a |
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