A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2091385



Internal ID7762496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:92571441..92571649hg38UCSC Ensembl
Outerchr15:92571386..92571707hg38UCSC Ensembl
Innerchr15:93114671..93114879hg19UCSC Ensembl
Outerchr15:93114616..93114937hg19UCSC Ensembl
Innerchr15:90915675..90915883hg18UCSC Ensembl
Outerchr15:90915620..90915941hg18UCSC Ensembl
Cytoband15q26.1
Allele length
AssemblyAllele length
hg38322
hg19322
hg18322
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4882270
SamplesNA18507
Known GenesLINC00930
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)esv2091385
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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