Internal ID | 7737329 |
Landmark | |
Location Information | |
Cytoband | 11p15.5 |
Allele length | Assembly | Allele length | hg38 | 398 | hg19 | 398 | hg18 | 398 |
|
Variant Type | CNV deletion |
Copy Number | |
Allele State | |
Allele Origin | |
Probe Count | |
Validation Flag | |
Merged Status | M |
Merged Variants | |
Supporting Variants | essv4792523 |
Samples | NA18507 |
Known Genes | DEAF1 |
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) | esv2412904
|
Frequency | Sample Size | 1 | Observed Gain | 0 | Observed Loss | 1 | Observed Complex | 0 | Frequency | n/a |
|