Variant DetailsVariant: dgv2251e212 Internal ID | 20150707 | Landmark | | Location Information | | Cytoband | Xp21.2 | Allele length | Assembly | Allele length | hg38 | 2555 | hg19 | 2555 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | esv3573755, esv3573746, esv3573741, esv3573740, esv3573749 | Samples | 400316SL, 400737GC, 400622SJ, 400970VE, 401321CE, 400834SS, 401582GG, 400245SJ, 401263HS, 400061DE, 401198TI, 401620BA, 400282RA, 400352CA, 400070PC, 401652HL, 401968HL, 400047DS, 400248JO, 401039PA, 400378HL, 401616WP, 401166WJ, 400719TM, 402023EC, 400300SD, 400494ML | Known Genes | DMD | 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) | dgv2251e212
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 27 | Observed Complex | 0 | Frequency | n/a |
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