Variant DetailsVariant: esv3573629 Internal ID | 18355141 | Landmark | | Location Information | | Cytoband | Xp22.12 | Allele length | Assembly | Allele length | hg38 | 13096 | hg19 | 13096 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | essv9824106, essv9824094, essv9824108, essv9824105, essv9824107, essv9824087, essv9824092, essv9824091, essv9824084, essv9824086, essv9824082, essv9824090, essv9824095, essv9824081, essv9824083, essv9824093, essv9824085, essv9824099, essv9824097, essv9824109, essv9824103, essv9824096, essv9824104, essv9824098, essv9824102, essv9824101 | Samples | 401191MI, 400075MR, 400534ME, 400949AM, 401783BD, 401190WC, 400893ZE, 401297KC, 402038MR, 400307HW, 401596PJ, 400507VD, 401732HW, 401939GD, 401210PB, 401513KC, 401942MP, 401952UH, 401087SF, 401874DJ, 401696CG, 400053LE, 401413RG, 400996MC, 400300SD, 401066MM | Known Genes | MAP3K15 | 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) | esv3573629
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 26 | Observed Complex | 0 | Frequency | n/a |
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