A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1923424



Internal ID7243171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:8300745..8300934hg38UCSC Ensembl
Outerchr4:8300688..8301008hg38UCSC Ensembl
Innerchr4:8302472..8302661hg19UCSC Ensembl
Outerchr4:8302415..8302735hg19UCSC Ensembl
Innerchr4:8353372..8353561hg18UCSC Ensembl
Outerchr4:8353315..8353635hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38321
hg19321
hg18321
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4583005
SamplesNA18507
Known GenesHTRA3
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)esv1923424
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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