A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4691027



Internal ID7276659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:72275894..72276085hg38UCSC Ensembl
Outerchr15:72275766..72276223hg38UCSC Ensembl
Innerchr15:72568235..72568426hg19UCSC Ensembl
Outerchr15:72568107..72568564hg19UCSC Ensembl
Innerchr15:70355289..70355480hg18UCSC Ensembl
Outerchr15:70355161..70355618hg18UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg38458
hg19458
hg18458
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1918298
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)essv4691027
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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