A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2323872



Internal ID7648297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:132716386..132716433hg38UCSC Ensembl
Outerchr11:132716208..132716609hg38UCSC Ensembl
Innerchr11:132586281..132586328hg19UCSC Ensembl
Outerchr11:132586103..132586504hg19UCSC Ensembl
Innerchr11:132091491..132091538hg18UCSC Ensembl
Outerchr11:132091313..132091714hg18UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38402
hg19402
hg18402
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4509502
SamplesNA18507
Known GenesOPCML
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)esv2323872
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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