Internal ID | 20133255 |
Landmark | |
Location Information | |
Cytoband | 16p13.11 |
Allele length | Assembly | Allele length | hg38 | 72234 | hg19 | 72234 | hg18 | 72234 | hg17 | 72234 |
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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 | nsv471532, nsv471385 |
Samples | NA18507, YH, JDW |
Known Genes | MIR1972-1, MIR1972-2, PDXDC1 |
Method | Sequencing |
Analysis | Using absolute estimates of copy number, we calculated an in silico log2 ratio for each of the three genome-wide comparisons and compared it with the experimental values determined by array CGH. 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 | |
Reference | Alkan_et_al_2009 |
Pubmed ID | 19718026 |
Accession Number(s) | dgv11n31
|
Frequency | Sample Size | 3 | Observed Gain | 3 | Observed Loss | 0 | Observed Complex | 0 | Frequency | n/a |
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