A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4782887



Internal ID7368519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:122789313..122789362hg38UCSC Ensembl
Outerchr4:122789115..122789566hg38UCSC Ensembl
Innerchr4:123710468..123710517hg19UCSC Ensembl
Outerchr4:123710270..123710721hg19UCSC Ensembl
Innerchr4:123929918..123929967hg18UCSC Ensembl
Outerchr4:123929720..123930171hg18UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg38452
hg19452
hg18452
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2026047
Supporting Variants
SamplesNA18507
Known Genes
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)essv4782887
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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