Internal ID | 18423708 |
Landmark | |
Location Information | |
Cytoband | 16p13.3 |
Allele length | Assembly | Allele length | hg38 | 138631 | hg19 | 138631 | hg18 | 138631 |
|
Variant Type | CNV gain |
Copy Number | |
Allele State | |
Allele Origin | |
Probe Count | |
Validation Flag | |
Merged Status | M |
Merged Variants | |
Supporting Variants | essv9838890 |
Samples | 2RB |
Known Genes | CORO7, CORO7-PAM16, DNAJA3, GLIS2, NMRAL1, PAM16, VASN |
Method | SNP array |
Analysis | We applied stringent filtering criteria such that CNV had to be a minimum of 1 kb and span 5 consecutive probes, and be detected by at least 2 out of the 3 algorithms. In addition we excluded CNVs that were on the X and Y-chromosomes, or approximately 300 kb adjacent to the centromeres and telomeres. |
Platform | Affymetrix Genome-Wide Human SNP Array 6.0 |
Comments | |
Reference | Mokhtar_et_al_2014 |
Pubmed ID | 24956385 |
Accession Number(s) | esv3584924
|
Frequency | Sample Size | 34 | Observed Gain | 1 | Observed Loss | 0 | Observed Complex | 0 | Frequency | n/a |
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