Variant DetailsVariant: esv3583458 Internal ID | 18364970 | Landmark | | Location Information | | Cytoband | 19q13.33 | Allele length | Assembly | Allele length | hg38 | 4066 | hg19 | 4066 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | essv9817708, essv9817712, essv9817709, essv9817714, essv9817717, essv9817711, essv9817713, essv9817718, essv9817719, essv9817720, essv9817707, essv9817716, essv9817715 | Samples | 400927BD, 401698SB, 402038MR, 401401BA, 400033KC, 400413FJ, 400082SD, 400444MM, 400136DM, 400053LE, 401894PD, 401612HB, 400152MR | Known Genes | MYH14 | 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) | esv3583458
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 13 | Observed Complex | 0 | Frequency | n/a |
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