Variant DetailsVariant: esv3568826Internal ID | 18350338 | Landmark | | Location Information | | Cytoband | 3p14.1 | Allele length | Assembly | Allele length | hg38 | 8115 | hg19 | 8115 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | essv9767307, essv9767309, essv9767305, essv9767308, essv9767306 | Samples | 400364SS, 401939GD, 401717LP, 401361GG, 401314MK | Known Genes | SLC25A26 | 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) | esv3568826
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 5 | Observed Complex | 0 | Frequency | n/a |
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