A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2296546



Internal ID7967657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:220081591..220081869hg38UCSC Ensembl
Outerchr2:220081394..220082040hg38UCSC Ensembl
Innerchr2:220946312..220946590hg19UCSC Ensembl
Outerchr2:220946115..220946761hg19UCSC Ensembl
Innerchr2:220654556..220654834hg18UCSC Ensembl
Outerchr2:220654359..220655005hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38647
hg19647
hg18647
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4852939
SamplesNA18507
Known Genes
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)esv2296546
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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