Variant DetailsVariant: esv7912 | Internal ID | 9951751 | | Landmark | | | Location Information | | | Cytoband | 3q21.2 | | Allele length | | Assembly | Allele length | | hg38 | 46371 | | hg19 | 46371 | | hg18 | 46371 |
| | Variant Type | OTHER inversion | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | | | Supporting Variants | essv30353 | | Samples | | | Known Genes | ALDH1L1, ALDH1L1-AS1, SLC41A3 | | Method | Sequencing | | Analysis | We detected SVs based on span size and orientation information of each paired-end read. Paired-end reads with an anomalously long span size (more than double the average span size of each DNA library) were identified as SV candidates (deletion and inversion), especially when they had a minimum of three reads in the region, maximum 100 read depth and mapping quality (Q20). SV candidates either found in repeat regions of the genome or having more than 100 kb of genomic deletions were filtered out. For insertion detection larger than the short indels (-29 to +14 bp), the longest 300-bp span size of our paired-end libraries was used. Thus, we could fill 175-bp to 250-bp insert gaps between short inserts and large inserts. The criteria used for detecting these insertions absent from the reference genome in the range of 175-250 bp were minimum four read depth, maximum 60 read depth to filter out randomly placed hits in a repetitive structure region, and mapping quality (Q20). | | Platform | Illumina Genome Analyzer | | Comments | | | Reference | Ahn_et_al_2009 | | Pubmed ID | 19470904 | | Accession Number(s) | esv7912
| | Frequency | | Sample Size | 1 | | Observed Gain | 0 | | Observed Loss | 0 | | Observed Complex | 0 | | Frequency | n/a |
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