A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2203085



Internal ID7527510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:101090864..101090957hg38UCSC Ensembl
Outerchr4:101090740..101091108hg38UCSC Ensembl
Innerchr4:102012021..102012114hg19UCSC Ensembl
Outerchr4:102011897..102012265hg19UCSC Ensembl
Innerchr4:102231044..102231137hg18UCSC Ensembl
Outerchr4:102230920..102231288hg18UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg38369
hg19369
hg18369
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4689561
SamplesNA18507
Known GenesPPP3CA
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)esv2203085
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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