A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2317272



Internal ID7988384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:68757236..68757558hg38UCSC Ensembl
Outerchr15:68757040..68757755hg38UCSC Ensembl
Innerchr15:69049575..69049897hg19UCSC Ensembl
Outerchr15:69049379..69050094hg19UCSC Ensembl
Innerchr15:66836629..66836951hg18UCSC Ensembl
Outerchr15:66836433..66837148hg18UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg38716
hg19716
hg18716
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4517081
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)esv2317272
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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