A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2307652



Internal ID7632077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:28781233..28781650hg38UCSC Ensembl
Outerchr22:28781136..28781730hg38UCSC Ensembl
Innerchr22:29177221..29177638hg19UCSC Ensembl
Outerchr22:29177124..29177718hg19UCSC Ensembl
Innerchr22:27507221..27507638hg18UCSC Ensembl
Outerchr22:27507124..27507718hg18UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg38595
hg19595
hg18595
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4989934
SamplesNA18507
Known GenesCCDC117
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)esv2307652
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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