A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2333544



Internal ID7657969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:112517127..112517176hg38UCSC Ensembl
Outerchr9:112516945..112517352hg38UCSC Ensembl
Innerchr9:115279407..115279456hg19UCSC Ensembl
Outerchr9:115279225..115279632hg19UCSC Ensembl
Innerchr9:114319228..114319277hg18UCSC Ensembl
Outerchr9:114319046..114319453hg18UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg38408
hg19408
hg18408
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4906293
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)esv2333544
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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