A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4992871



Internal ID7231817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:56914..57608hg38UCSC Ensembl
Outerchr4:56745..57775hg38UCSC Ensembl
Innerchr4:56808..57501hg19UCSC Ensembl
Outerchr4:56639..57668hg19UCSC Ensembl
Innerchr4:46808..47501hg18UCSC Ensembl
Outerchr4:46639..47668hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg381031
hg191030
hg181030
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2420576
Supporting Variants
SamplesNA18507
Known GenesZNF595, ZNF718
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)essv4992871
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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