A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2058583



Internal ID7729694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:39227911..39228238hg38UCSC Ensembl
Outerchr15:39227710..39228437hg38UCSC Ensembl
Innerchr15:39520112..39520439hg19UCSC Ensembl
Outerchr15:39519911..39520638hg19UCSC Ensembl
Innerchr15:37307404..37307731hg18UCSC Ensembl
Outerchr15:37307203..37307930hg18UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg38728
hg19728
hg18728
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4774423
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)esv2058583
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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