Internal ID | 20148893 |
Landmark | |
Location Information | |
Cytoband | 12p13.33 |
Allele length | Assembly | Allele length | hg38 | 5100 | hg19 | 5100 |
|
Variant Type | CNV loss |
Copy Number | |
Allele State | |
Allele Origin | |
Probe Count | |
Validation Flag | |
Merged Status | M |
Merged Variants | |
Supporting Variants | esv3580041, esv3580042, esv3580040 |
Samples | 401259LS, 400996MC, 400923OA |
Known Genes | CACNA1C |
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) | dgv437e212
|
Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 3 | Observed Complex | 0 | Frequency | n/a |
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