A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2294940



Internal ID7619365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:65498965..65499039hg38UCSC Ensembl
Outerchr4:65498777..65499238hg38UCSC Ensembl
Innerchr4:66364683..66364757hg19UCSC Ensembl
Outerchr4:66364495..66364956hg19UCSC Ensembl
Innerchr4:66047278..66047352hg18UCSC Ensembl
Outerchr4:66047090..66047551hg18UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg38462
hg19462
hg18462
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4660650
SamplesNA18507
Known GenesEPHA5
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)esv2294940
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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