Variant DetailsVariant: dgv139e212Internal ID | 20148595 | Landmark | | Location Information | | Cytoband | 1q32.2 | Allele length | Assembly | Allele length | hg38 | 56723 | hg19 | 56723 |
| Variant Type | CNV gain | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | esv3575505, esv3575494, esv3575584, esv3575571, esv3575549, esv3575527, esv3575560, esv3575483, esv3575516, esv3575538 | Samples | 400926LJ, 400094RS, 400337HG, 401762SD, 400050RL, 400248JO, 401182OC, 400136DM, 400458LS, 400645KM | Known Genes | CR1 | 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) | dgv139e212
| Frequency | Sample Size | 873 | Observed Gain | 10 | Observed Loss | 0 | Observed Complex | 0 | Frequency | n/a |
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