A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2279377



Internal ID7603802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:5862282..5862346hg38UCSC Ensembl
Outerchr4:5862094..5862552hg38UCSC Ensembl
Innerchr4:5864009..5864073hg19UCSC Ensembl
Outerchr4:5863821..5864279hg19UCSC Ensembl
Innerchr4:5914910..5914974hg18UCSC Ensembl
Outerchr4:5914722..5915180hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38459
hg19459
hg18459
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4983063
SamplesNA18507
Known GenesCRMP1
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)esv2279377
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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