Internal ID | 8330990 |
Landmark | |
Location Information | |
Cytoband | 3p26.3 |
Allele length | Assembly | Allele length | hg38 | 2001 | hg19 | 2001 | hg18 | 2001 |
|
Variant Type | CNV loss |
Copy Number | |
Allele State | |
Allele Origin | |
Probe Count | |
Validation Flag | |
Merged Status | M |
Merged Variants | |
Supporting Variants | essv5341369 |
Samples | NA18507 |
Known Genes | CNTN6 |
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) | esv2614118
|
Frequency | Sample Size | 1 | Observed Gain | 0 | Observed Loss | 1 | Observed Complex | 0 | Frequency | n/a |
|