| Internal ID | 6084080 |
| Landmark | |
| Location Information | |
| Cytoband | 6p21.32 |
| Allele length | | Assembly | Allele length | | hg19 | n/a | | hg18 | n/a |
|
| Variant Type | CNV Loss |
| Copy Number | |
| Allele State | |
| Allele Origin | Not tested |
| Probe Count | |
| Merged Status | S |
| Merged Variants | |
| Supporting Variants | nssv627800 |
| Samples | |
| Known Genes | HLA-DQA1 |
| Method | |
| Analysis | Genotype copy number polymorphisms in known CNP loci. We applied the Agilent ADM2 algorithm to identify potential CNPs in the targeted sites. Boundaries were manually refined. Copy numbers are assigned to each set of sample classes for each interval by simultaneously fitting integer copy number values to the test sample classes and the reference sample using the median signals, log ratios and the estimate of the single copy signal intensity. For potential CNPs that could not be fitted to discrete copy numbers, we use the single channel intensity data to estimate the copy number of the reference sample and the test samples. ADM2 threshold = 5 |
| Platform | Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 |
| Comments | |
| Reference | Campbell et al 2011 |
| Pubmed ID | 21397061 |
| Accession Number(s) | nsv514351
|
| Frequency | | Sample Size | 1414 | | Observed Gain | 0 | | Observed Loss | 1 | | Observed Complex | 0 | | Frequency | n/a |
|
