Variant DetailsVariant: esv3577704 Internal ID | 18359216 | Landmark | | Location Information | | Cytoband | 1p36.32 | Allele length | Assembly | Allele length | hg38 | 13145 | hg19 | 13145 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | dgv7e212 | Supporting Variants | essv9785421, essv9785088, essv9785310, essv9785533, essv9785199, essv9784977 | Samples | 400574MA, 401551MB, 400893ZE, 401165SB, 400650RM, 400076LC | Known Genes | PRDM16 | 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) | esv3577704
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 6 | Observed Complex | 0 | Frequency | n/a |
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