Variant DetailsVariant: esv3570596Internal ID | 18352108 | Landmark | | Location Information | | Cytoband | 5q35.3 | Allele length | Assembly | Allele length | hg38 | 8431 | hg19 | 8431 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | essv9777007, essv9777006, essv9777008, essv9777005, essv9777004 | Samples | 401734PG, 401672FD, 400763BT, 400248JO, 401012TP | Known Genes | MGAT4B, SQSTM1 | 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) | esv3570596
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 5 | Observed Complex | 0 | Frequency | n/a |
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