A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2330809



Internal ID8001920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:238880032..238880978hg38UCSC Ensembl
Outerchr2:239788673..239789619hg19UCSC Ensembl
Innerchr2:239454271..239454373hg18UCSC Ensembl
Outerchr2:239454074..239454556hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38947
hg19947
hg18483
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4862964
SamplesNA18507
Known GenesTWIST2
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)esv2330809
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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