| Internal ID | 8414901 |
| Landmark | |
| Location Information | |
| Cytoband | 14q12 |
| Allele length | | Assembly | Allele length | | hg38 | 5832 | | hg19 | 5832 | | hg18 | 5832 |
|
| Variant Type | CNV loss |
| Copy Number | |
| Allele State | |
| Allele Origin | |
| Probe Count | |
| Validation Flag | |
| Merged Status | S |
| Merged Variants | esv2527143 |
| Supporting Variants | |
| Samples | NA18507 |
| Known Genes | AKAP6 |
| Method | Sequencing |
| Analysis | Copy number variations are detected using the SOLiD Human CNV Tool. Regions with poor mappability are filtered out from consideration and a log ratio of coverage is used to determine areas of increased copy number. A Hidden Markov Model converts increased coverage into discrete copy number states. |
| Platform | Not specified |
| Comments | originalFile=Yoruban_cnv.gff |
| Reference | McKernan_et_al_2009 |
| Pubmed ID | 19546169 |
| Accession Number(s) | essv5323166
|
| Frequency | | Sample Size | 1 | | Observed Gain | 0 | | Observed Loss | 1 | | Observed Complex | 0 | | Frequency | n/a |
|
