A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4625368



Internal ID6864314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:31713735..31714079hg38UCSC Ensembl
Outerchr8:31713539..31714276hg38UCSC Ensembl
Innerchr8:31571251..31571595hg19UCSC Ensembl
Outerchr8:31571055..31571792hg19UCSC Ensembl
Innerchr8:31690793..31691137hg18UCSC Ensembl
Outerchr8:31690597..31691334hg18UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38738
hg19738
hg18738
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2167886
Supporting Variants
SamplesNA18507
Known GenesNRG1
MethodSequencing
AnalysisHierarchical clustering of anomalous readpairs was used to identify groupings of five or more readpairs that had a similar size and position. Read pairs were defined as anomalous if they had high-confidence alignments of each individual read that nevertheless were either incorrectly oriented or implied an insert size of at least 3 standard deviations outside the sample median.
PlatformNot specified
Comments
ReferenceBentley_et_al_2008
Pubmed ID18987734
Accession Number(s)essv4625368
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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