Variant DetailsVariant: dgv2153e212 Internal ID | 20150609 | Landmark | | Location Information | | Cytoband | 9q21.11 | Allele length | Assembly | Allele length | hg38 | 2784 | hg19 | 2784 |
| Variant Type | CNV gain | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | esv3576652, esv3576653, esv3576656 | Samples | 401052BM, 401592NR, 401415CB, 401742KB, 401857VG, 400225CJ, 400827MM, 400427SD, 401773AM, 401406KF, 400218WK, 401977ES, 401691HA, 401274PA, 402033WD, 401618HR, 401475MK, 401771OS, 401414CR, 401711WS, 402074RR, 400354TJ, 400158FB, 400053LE, 400712GC, 401861GG, 400525MR, 400261RN, 401932GN, 401882CR, 401612HB, 400243CK, 400942HR | Known Genes | TJP2 | 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) | dgv2153e212
| Frequency | Sample Size | 873 | Observed Gain | 33 | Observed Loss | 0 | Observed Complex | 0 | Frequency | n/a |
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