Variant DetailsVariant: esv3572558Internal ID | 18354070 | Landmark | | Location Information | | Cytoband | 8p22 | Allele length | Assembly | Allele length | hg38 | 12425 | hg19 | 12425 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | dgv2048e212 | Supporting Variants | essv9787230, essv9787217, essv9787226, essv9787221, essv9787224, essv9787227, essv9787225, essv9787218, essv9787219, essv9787215, essv9787228, essv9787229, essv9787216, essv9787223, essv9787220 | Samples | 401110GJ, 400364SS, 400574MA, 401733CG, 401198TI, 400442FE, 400496BL, 400043HC, 401346FJ, 400362TV, 400319HT, 400654YW, 401315HK, 401809FU, 401993HM | Known Genes | TUSC3 | 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) | esv3572558
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 15 | Observed Complex | 0 | Frequency | n/a |
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