| Internal ID | 11387972 |
| Landmark | |
| Location Information | |
| Cytoband | 12q13.3 |
| Allele length | | Assembly | Allele length | | hg38 | 48699 | | hg19 | 48699 | | hg18 | 48699 |
|
| Variant Type | CNV gain+loss |
| Copy Number | |
| Allele State | |
| Allele Origin | |
| Probe Count | |
| Validation Flag | |
| Merged Status | M |
| Merged Variants | |
| Supporting Variants | esv12940, esv13560, esv15919, esv10544, esv18102 |
| Samples | NA12489, NA19147, NA18505 |
| Known Genes | RDH16 |
| Method | Oligo aCGH |
| Analysis | Segment log2 ratios from each sample. This was done running the GADA algorithm (Pique-Regi et al., 2008) using the options "-M 10 -T 10 -a 2.5". Filter non-CNV segments using intensity thresholds. Merge remaining CNV "calls" within each sample. Adjacent calls of the same direction (gain or loss) are merged if both: the distance between calls is less than 10kb, and the distance between calls is less than 10% of the size of the largest of the two calls. |
| Platform | Sanger H. Sapiens 42mCGH Array 5781_53 726K v1 |
| Comments | |
| Reference | Conrad_et_al_2009 |
| Pubmed ID | 19812545 |
| Accession Number(s) | esv24053
|
| Frequency | | Sample Size | 40 | | Observed Gain | 1 | | Observed Loss | 2 | | Observed Complex | 0 | | Frequency | n/a |
|
