Variant DetailsVariant: esv3571562 Internal ID | 18353074 | Landmark | | Location Information | | Cytoband | 7p22.3 | Allele length | Assembly | Allele length | hg38 | 5055 | hg19 | 5055 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | essv9782821, essv9782823, essv9782825, essv9782820, essv9782831, essv9782829, essv9782834, essv9782827, essv9782826, essv9782832, essv9782835, essv9782830, essv9782824, essv9782828 | Samples | 400534ME, 401734PG, 400730SH, 400948EV, 401297KC, 401165SB, 401965TG, 401620BA, 400663MD, 400705KK, 400458LS, 401288LD, 401912HD, 401453OL | Known Genes | AMZ1 | 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) | esv3571562
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 14 | Observed Complex | 0 | Frequency | n/a |
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