Internal ID | 15211862 |
Landmark | |
Location Information | |
Cytoband | 16q12.2 |
Allele length | Assembly | Allele length | hg38 | 42563 | hg19 | 42563 | hg18 | 42563 | hg17 | 42563 |
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Variant Type | CNV gain |
Copy Number | |
Allele State | |
Allele Origin | |
Probe Count | |
Validation Flag | |
Merged Status | M |
Merged Variants | |
Supporting Variants | nssv548167, nssv548156, nssv548178 |
Samples | NA18507, YH, JDW |
Known Genes | CES1 |
Method | Sequencing |
Analysis | We constructed duplication maps for each of the three genomes and estimated the absolute copy number of each duplication interval larger than 20 kb in length. We considered a given segment to be duplicated within an individual if the median estimated copy number for that individual was >2.5. |
Platform | Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen |
Comments | CES1 |
Reference | Alkan_et_al_2009 |
Pubmed ID | 19718026 |
Accession Number(s) | nsv471382
|
Frequency | Sample Size | 3 | Observed Gain | 3 | Observed Loss | 0 | Observed Complex | 0 | Frequency | n/a |
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