A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1984160



Internal ID7308585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:69163015..69163327hg38UCSC Ensembl
Outerchr9:69162835..69163529hg38UCSC Ensembl
Innerchr9:71777931..71778243hg19UCSC Ensembl
Outerchr9:71777751..71778445hg19UCSC Ensembl
Innerchr9:70967751..70968063hg18UCSC Ensembl
Outerchr9:70967571..70968265hg18UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg38695
hg19695
hg18695
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4654989
SamplesNA18507
Known GenesTJP2
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)esv1984160
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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