Variant DetailsVariant: esv3570247 Internal ID | 18351759 | Landmark | | Location Information | | Cytoband | 5q14.3 | Allele length | Assembly | Allele length | hg38 | 3363 | hg19 | 3363 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | essv9775483, essv9775486, essv9775484, essv9775485, essv9775487, essv9775489, essv9775482 | Samples | 401636WR, 401117NA, 400688FL, 400526DR, 401997HB, 400246MG, 400238BB | Known Genes | MEF2C | 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) | esv3570247
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 7 | Observed Complex | 0 | Frequency | n/a |
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