Variant DetailsVariant: esv3576808 | Internal ID | 18358320 | | Landmark | | | Location Information | | | Cytoband | Xp21.2 | | Allele length | | Assembly | Allele length | | hg38 | 2695 | | hg19 | 2695 |
| | Variant Type | CNV gain | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | dgv2249e212 | | Supporting Variants | essv9824774, essv9824787, essv9824790, essv9824804, essv9824812, essv9824780, essv9824785, essv9824792, essv9824813, essv9824809, essv9824775, essv9824784, essv9824803, essv9824798, essv9824807, essv9824810, essv9824794, essv9824782, essv9824777, essv9824793, essv9824808, essv9824781, essv9824797, essv9824783, essv9824779, essv9824799, essv9824796, essv9824776, essv9824786, essv9824801, essv9824802, essv9824806, essv9824805, essv9824795, essv9824788, essv9824791 | | Samples | 400316SL, 400599CP, 400439IM, 401819BS, 400101EH, 400995MS, 401841OB, 400059SV, 400948EV, 400227MM, 400033KC, 400348DK, 400121PL, 400032RC, 400729HC, 400383HL, 401785MJ, 400663MD, 401274PA, 400838AM, 401230NL, 400093BL, 401326LI, 401813DN, 400014SL, 40050SB, 401700BN, 400378HL, 400837HN, 400168HC, 400722OM, 400128MJ, 401100SJ, 400785AK, 400150SS, 401066MM | | 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) | esv3576808
| | Frequency | | Sample Size | 873 | | Observed Gain | 36 | | Observed Loss | 0 | | Observed Complex | 0 | | Frequency | n/a |
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