A curated catalogue of human genomic structural variation

Variant Details

Variant: essv30187

Internal ID9600717
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:13438409..13438461hg38UCSC Ensembl
Outerchr19:13438354..13438511hg38UCSC Ensembl
Innerchr19:13549223..13549275hg19UCSC Ensembl
Outerchr19:13549168..13549325hg19UCSC Ensembl
Innerchr19:13410223..13410275hg18UCSC Ensembl
Outerchr19:13410168..13410325hg18UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv7746
Supporting Variants
Known GenesCACNA1A
AnalysisWe 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).
PlatformIllumina Genome Analyzer
Pubmed ID19470904
Accession Number(s)essv30187
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0

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