Variant DetailsVariant: esv3572559Internal ID | 18354071 | Landmark | | Location Information | | Cytoband | 8p22 | Allele length | Assembly | Allele length | hg38 | 22359 | hg19 | 22359 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | dgv2049e212 | Supporting Variants | essv9787258, essv9787245, essv9787262, essv9787256, essv9787261, essv9787242, essv9787275, essv9787270, essv9787263, essv9787276, essv9787272, essv9787269, essv9787264, essv9787271, essv9787257, essv9787248, essv9787274, essv9787246, essv9787254, essv9787265, essv9787273, essv9787251, essv9787253, essv9787241, essv9787267, essv9787252, essv9787250, essv9787259, essv9787260, essv9787249, essv9787247, essv9787268, essv9787243 | Samples | 400984LD, 401852SK, 400553PP, 400948EV, 401214BJ, 400817MB, 401495NR, 401532LJ, 401746WW, 400929MM, 400302HW, 400825TW, 401477ST, 401589HP, 401694SG, 401311GL, 400518MS, 401677MM, 400136DM, 400454RE, 402009WP, 400246MG, 401881TJ, 401693RC, 400971MK, 400586RD, 401166WJ, 400323AA, 400315DA, 400508RD, 401284NA, 401882CR, 400532MH | 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) | esv3572559
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 33 | Observed Complex | 0 | Frequency | n/a |
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