Internal ID | 8066430 |
Landmark | |
Location Information | |
Cytoband | 2q13 |
Allele length | Assembly | Allele length | hg38 | 29777 | hg19 | 29777 | hg18 | 29777 |
|
Variant Type | CNV gain |
Copy Number | |
Allele State | |
Allele Origin | |
Probe Count | |
Validation Flag | |
Merged Status | S |
Merged Variants | esv2556499 |
Supporting Variants | |
Samples | NA18507 |
Known Genes | MALL, MIR4267, MIR4436B1, MIR4436B2 |
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) | essv5321381
|
Frequency | Sample Size | 1 | Observed Gain | 1 | Observed Loss | 0 | Observed Complex | 0 | Frequency | n/a |
|