Internal ID | 20132621 |
Landmark | |
Location Information | |
Cytoband | 17p11.2 |
Allele length | Assembly | Allele length | hg38 | 181224 | hg19 | 181173 | hg18 | 181173 | hg17 | 181173 |
|
Variant Type | CNV gain |
Copy Number | |
Allele State | |
Allele Origin | |
Probe Count | |
Validation Flag | |
Merged Status | M |
Merged Variants | |
Supporting Variants | nsv457710, nsv457708, nsv457711 |
Samples | HGDP01166, HGDP00800, HGDP01099 |
Known Genes | C17orf51, KCNJ12, KCNJ18 |
Method | SNP array |
Analysis | An HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives. |
Platform | Not reported |
Comments | |
Reference | Itsara_et_al_2009 |
Pubmed ID | 19166990 |
Accession Number(s) | dgv363n27
|
Frequency | Sample Size | 1557 | Observed Gain | 3 | Observed Loss | 0 | Observed Complex | 0 | Frequency | n/a |
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