A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2082397



Internal ID7406822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:110720663..110720707hg38UCSC Ensembl
Outerchr10:110720473..110720909hg38UCSC Ensembl
Innerchr10:112480421..112480465hg19UCSC Ensembl
Outerchr10:112480231..112480667hg19UCSC Ensembl
Innerchr10:112470411..112470455hg18UCSC Ensembl
Outerchr10:112470221..112470657hg18UCSC Ensembl
Cytoband10q25.2
Allele length
AssemblyAllele length
hg38437
hg19437
hg18437
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4554413
SamplesNA18507
Known GenesRBM20
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)esv2082397
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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