Variant DetailsVariant: dgv23n31 Internal ID | 20133267 | Landmark | | Location Information | | Cytoband | 7q22.1 | Allele length | Assembly | Allele length | hg38 | 303664 | hg19 | 303664 | hg18 | 303895 | hg17 | 303895 |
| Variant Type | CNV gain | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | nsv471540, nsv471337, nsv471535, nsv471534, nsv471505 | Samples | NA18507, YH, JDW | Known Genes | FAM185A, POLR2J, POLR2J2, POLR2J3, RASA4, RASA4B, SPDYE2, SPDYE2B, UPK3BL | 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) | dgv23n31
| Frequency | Sample Size | 3 | Observed Gain | 3 | Observed Loss | 0 | Observed Complex | 0 | Frequency | n/a |
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