Variant DetailsVariant: dgv1591e212 Internal ID | 20150047 | Landmark | | Location Information | | Cytoband | 5p13.3 | Allele length | Assembly | Allele length | hg38 | 68902 | hg19 | 68902 |
| Variant Type | CNV gain | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | esv3575829, esv3575832, esv3575834, esv3575827, esv3575826, esv3575830, esv3575831 | Samples | 400145BL, 400987FB, 400739SS, 400114GR, 401956DQ, 401302LJ, 401355CD, 400486LS, 400441GS, 400203NA, 400148MS, 400825TW, 401091HS, 401125LM, 401717LP, 400660GK, 401594MP, 401185LE, 400265LK, 400598DA, 400520FM, 401700BN, 400430KV, 400818BL, 401057SS, 401315HK, 401958MF, 401265CB, 401135CS, 400849SH, 400261RN, 401576WC, 400982BS | Known Genes | GOLPH3, PDZD2 | 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) | dgv1591e212
| Frequency | Sample Size | 873 | Observed Gain | 33 | Observed Loss | 0 | Observed Complex | 0 | Frequency | n/a |
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