A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4555494



Internal ID7141126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:55175370..55175459hg38UCSC Ensembl
Outerchr4:55175188..55175632hg38UCSC Ensembl
Innerchr4:56041537..56041626hg19UCSC Ensembl
Outerchr4:56041355..56041799hg19UCSC Ensembl
Innerchr4:55736294..55736383hg18UCSC Ensembl
Outerchr4:55736112..55736556hg18UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38445
hg19445
hg18445
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2321267
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)essv4555494
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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