Variant DetailsVariant: esv3571382 | Internal ID | 18699580 | | Landmark | | | Location Information | | | Cytoband | 6q22.31 | | Allele length | | Assembly | Allele length | | hg38 | 7564 | | hg19 | 7564 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | | | Supporting Variants | essv9781507, essv9781493, essv9781502, essv9781514, essv9781477, essv9781499, essv9781490, essv9781495, essv9781508, essv9781513, essv9781503, essv9781497, essv9781501, essv9781509, essv9781484, essv9781485, essv9781476, essv9781479, essv9781491, essv9781481, essv9781515, essv9781512, essv9781482, essv9781498, essv9781483, essv9781492, essv9781480, essv9781487, essv9781486, essv9781494, essv9781488, essv9781506, essv9781510, essv9781505, essv9781496, essv9781504 | | Samples | 401212HJ, 401235IA, 401117NA, 400083TG, 401966SR, 401783BD, 401491BB, 401931JL, 400730SH, 401096SL, 401556KR, 400953MR, 401136LB, 401258PC, 400827MM, 401842BJ, 400743LS, 401252AE, 400032RC, 400041LJ, 400615RI, 400791GC, 400110MD, 401950MD, 401519SA, 401630MK, 400681MC, 400362TV, 400520FM, 401514BA, 401898DS, 400069CN, 400267GD, 401354KM, 401607LL, 400645KM | | Known Genes | TRDN | | 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) | esv3571382
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 36 | | Observed Complex | 0 | | Frequency | n/a |
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