Variant DetailsVariant: dgv1222e212Internal ID | 20149678 | Landmark | | Location Information | | Cytoband | 2q37.3 | Allele length | Assembly | Allele length | hg38 | 3554 | hg19 | 3554 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | esv3584394, esv3584395 | Samples | 400068PW, 400545EW, 402012RR, 400871CM, 401104DM, 401831TW, 401997HB, 401791FG, 401764JJ, 400124FR, 400361HC, 401795SP, 400999HR, 401844ZD, 400238BB, 400091BS | Known Genes | SNED1 | 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) | dgv1222e212
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 16 | Observed Complex | 0 | Frequency | n/a |
|
|