A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1981326



Internal ID7305751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:112502365..112502456hg38UCSC Ensembl
Outerchr9:112502186..112502650hg38UCSC Ensembl
Innerchr9:115264645..115264736hg19UCSC Ensembl
Outerchr9:115264466..115264930hg19UCSC Ensembl
Innerchr9:114304466..114304557hg18UCSC Ensembl
Outerchr9:114304287..114304751hg18UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg38465
hg19465
hg18465
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4603364
SamplesNA18507
Known GenesKIAA1958
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)esv1981326
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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