Variant DetailsVariant: esv3574139 Internal ID | 18355651 | Landmark | | Location Information | | Cytoband | Xq21.2 | Allele length | Assembly | Allele length | hg38 | 5356 | hg19 | 5356 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | essv9826835, essv9826843, essv9826837, essv9826861, essv9826845, essv9826841, essv9826838, essv9826860, essv9826858, essv9826836, essv9826857, essv9826847, essv9826846, essv9826848, essv9826839, essv9826851, essv9826852, essv9826840, essv9826849, essv9826856, essv9826853, essv9826850, essv9826842, essv9826854, essv9826862, essv9826834, essv9826859 | Samples | 401420PJ, 401400NP, 400572PJ, 401261HD, 400101EH, 401096SL, 401355CD, 401308LD, 400482MD, 400631SJ, 401133JG, 401773AM, 401029SD, 401873BK, 402033WD, 401091HS, 401084BD, 400124FR, 401493HC, 400422PN, 401307VR, 401778CB, 400788PV, 400732MA, 400483DP, 401453OL, 400243CK | Known Genes | CHM | 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) | esv3574139
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 27 | Observed Complex | 0 | Frequency | n/a |
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