Variant DetailsVariant: dgv724e212 | Internal ID | 22783651 | | Landmark | | | Location Information | | | Cytoband | 15q12 | | Allele length | | Assembly | Allele length | | hg38 | 3013 | | hg19 | 3013 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | | | Supporting Variants | esv3581599, esv3581598 | | Samples | 400308SP, 400599CP, 401366WD, 400984LD, 401005BL, 400455SJ, 400917CG, 400313DF, 400101EH, 400512LR, 401074CM, 400622SJ, 400272AE, 401899MB, 401434VN, 400051MR, 400134WK, 400061DE, 401401BA, 400033KC, 401155ML, 401831TW, 400333CC, 400579HJ, 400107MJ, 400218WK, 400763BT, 400870KC, 402033WD, 400702PA, 401863BD, 400064WJ, 400240HJ, 401454CD, 401859GS, 401943KA, 400686BM, 401478RD, 400603CJ, 400450FG, 400168HC, 401203MP, 400483DP, 401608GE, 401315HK, 401277RA, 401693RC, 401010HT, 401894PD, 401786WD, 400859SC, 400072GR, 401567BD, 401040KM, 400661AD, 400540BM, 401395OP | | Known Genes | GABRA5 | | 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) | dgv724e212
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 57 | | Observed Complex | 0 | | Frequency | n/a |
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