Variant DetailsVariant: esv3572704 Internal ID | 18354216 | Landmark | | Location Information | | Cytoband | 8p11.21 | Allele length | Assembly | Allele length | hg38 | 6878 | hg19 | 6878 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | essv9788419, essv9788402, essv9788411, essv9788409, essv9788395, essv9788427, essv9788398, essv9788423, essv9788428, essv9788414, essv9788424, essv9788407, essv9788400, essv9788420, essv9788426, essv9788405, essv9788412, essv9788408, essv9788416, essv9788394, essv9788417, essv9788404, essv9788413, essv9788415, essv9788396, essv9788406, essv9788425, essv9788397, essv9788418, essv9788403, essv9788401 | Samples | 400926LJ, 400101EH, 400512LR, 401931JL, 401384BP, 400077EB, 400797ST, 400379BB, 400627CC, 400482MD, 401263HS, 401155ML, 400650RM, 400113LD, 401085LA, 400110MD, 400838AM, 400381CA, 401618HR, 400265LK, 402001SR, 400722OM, 401571SD, 400205SP, 401763SG, 400315DA, 400261RN, 401458RT, 401254AE, 401246HH, 401482CB | Known Genes | ZMAT4 | 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) | esv3572704
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 31 | Observed Complex | 0 | Frequency | n/a |
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