Variant DetailsVariant: esv3571043 | Internal ID | 18699241 | | Landmark | | | Location Information | | | Cytoband | 6p12.3 | | Allele length | | Assembly | Allele length | | hg38 | 8049 | | hg19 | 8049 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | dgv1766e212 | | Supporting Variants | essv9779218, essv9779221, essv9779222, essv9779192, essv9779202, essv9779207, essv9779220, essv9779215, essv9779210, essv9779213, essv9779227, essv9779225, essv9779211, essv9779205, essv9779224, essv9779190, essv9779208, essv9779199, essv9779187, essv9779197, essv9779219, essv9779196, essv9779191, essv9779204, essv9779188, essv9779198, essv9779195, essv9779209, essv9779193, essv9779206, essv9779217, essv9779194, essv9779214, essv9779186, essv9779203, essv9779226, essv9779216 | | Samples | 400908PJ, 401442WR, 401918CA, 401096SL, 401949MN, 400059SV, 402019MC, 402062KR, 400588BE, 401401BA, 400817MB, 400206SC, 401855RE, 401609MB, 401406KF, 401764JJ, 400007RG, 401900RJ, 400110MD, 401804FG, 401278DM, 401084BD, 401346FJ, 400047DS, 400854SG, 401889FR, 400869BK, 401580CA, 400518MS, 400168HC, 400770MA, 401166WJ, 401763SG, 401829FJ, 400178RH, 400164SS, 400269DA | | Known Genes | | | 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) | esv3571043
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 37 | | Observed Complex | 0 | | Frequency | n/a |
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