A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2388683



Internal ID7713108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:69123205..69128441hg38UCSC Ensembl
Outerchr9:69123026..69128618hg38UCSC Ensembl
Innerchr9:71738121..71743357hg19UCSC Ensembl
Outerchr9:71737942..71743534hg19UCSC Ensembl
Innerchr9:70927941..70933177hg18UCSC Ensembl
Outerchr9:70927762..70933354hg18UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg385593
hg195593
hg185593
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4879555
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)esv2388683
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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