A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2096560



Internal ID7420985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:110061712..110062084hg38UCSC Ensembl
Outerchr9:110061633..110062203hg38UCSC Ensembl
Innerchr9:112823992..112824364hg19UCSC Ensembl
Outerchr9:112823913..112824483hg19UCSC Ensembl
Innerchr9:111863813..111864185hg18UCSC Ensembl
Outerchr9:111863734..111864304hg18UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg38571
hg19571
hg18571
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4583448
SamplesNA18507
Known GenesAKAP2, PALM2-AKAP2
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)esv2096560
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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