A curated catalogue of human genomic structural variation




Variant Details

Variant: esv5209



Internal ID12624394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:8634107..8634453hg38UCSC Ensembl
Outerchr18:8634105..8634451hg19UCSC Ensembl
Outerchr18:8624105..8624451hg18UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg38347
hg19347
hg18347
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv27650
SamplesYH
Known GenesRAB12
MethodSequencing
AnalysisWe defined a read pair as a diagnostic paired-end (PE) if the two ends of a read pair 1) could both be aligned but 2) could not meet the pair-end insert size and/or orientation requirement. We grouped abnormally mapped paired-end reads with coordinate distances smaller than the maximum insert size on both ends into diagnostic PE clusters. In order to avoid misalignment, PE clusters with greater than 4 pairs were discarded. Common structural variations like deletions, translocations, duplications, inversions etc. were examined and summarized into alignment models. This paired-end method (PEM) is substantially biased to deletion events. In addition to searching for SVs using paired-end methods (PEM), we also identified copy number variations (CNV) based on read depth. By modeling sequencing depth distribution on different levels of GC content, we found 1701 CNV regions that had a lower copy number (1-47 kb in length, median at 1 kb) and 1299 that had a higher copy number (1-105 kb in length, median at 1 kb) than NCBI36. Approximately 82% of the CNV regions that had a lower copy number and 61% CNVs that had a higher copy number had more than a 50% overlap with the annotated repeats, which was not surprising. However, these regions may be somewhat inaccurate because sequencing depth can be affected by many factors, including GC content and alignment difficulties in repetitive region.
PlatformIllumina Genome Analyzer
Comments
ReferenceWang_et_al_2008
Pubmed ID18987735
Accession Number(s)esv5209
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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