| Internal ID | 7278066 |
| Landmark | |
| Location Information | |
| Cytoband | 6q13 |
| Allele length | | Assembly | Allele length | | hg38 | 448 | | hg19 | 448 | | hg18 | 448 |
|
| Variant Type | CNV deletion |
| Copy Number | |
| Allele State | |
| Allele Origin | |
| Probe Count | |
| Validation Flag | |
| Merged Status | S |
| Merged Variants | esv2179651 |
| Supporting Variants | |
| Samples | NA18507 |
| Known Genes | KCNQ5 |
| Method | Sequencing |
| Analysis | Hierarchical clustering of anomalous readpairs was used to identify groupings of five or more readpairs that had a similar size and position. Read pairs were defined as anomalous if they had high-confidence alignments of each individual read that nevertheless were either incorrectly oriented or implied an insert size of at least 3 standard deviations outside the sample median. |
| Platform | Not specified |
| Comments | |
| Reference | Bentley_et_al_2008 |
| Pubmed ID | 18987734 |
| Accession Number(s) | essv4692434
|
| Frequency | | Sample Size | 1 | | Observed Gain | 0 | | Observed Loss | 1 | | Observed Complex | 0 | | Frequency | n/a |
|
