Variant DetailsVariant: dgv26n31 Internal ID | 20133270 | Landmark | | Location Information | | Cytoband | 8p23.1 | Allele length | Assembly | Allele length | hg38 | 83422 | hg19 | 83422 | hg18 | 83422 | hg17 | 83422 |
| Variant Type | CNV gain | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | nsv471470, nsv471469, nsv471473, nsv471548 | Samples | NA18507, YH | Known Genes | DEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, SPAG11A, SPAG11B | 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 | | Reference | Alkan_et_al_2009 | Pubmed ID | 19718026 | Accession Number(s) | dgv26n31
| Frequency | Sample Size | 3 | Observed Gain | 2 | Observed Loss | 0 | Observed Complex | 0 | Frequency | n/a |
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