A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2200110



Internal ID7524535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:42989618..42989927hg38UCSC Ensembl
Outerchr3:42989408..42990124hg38UCSC Ensembl
Innerchr3:43031110..43031419hg19UCSC Ensembl
Outerchr3:43030900..43031616hg19UCSC Ensembl
Innerchr3:43006114..43006423hg18UCSC Ensembl
Outerchr3:43005904..43006620hg18UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg38717
hg19717
hg18717
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4766689
SamplesNA18507
Known GenesFAM198A
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)esv2200110
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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