A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4990760



Internal ID7576392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:39884472..39884671hg38UCSC Ensembl
Outerchr20:39884412..39884754hg38UCSC Ensembl
Innerchr20:38513114..38513313hg19UCSC Ensembl
Outerchr20:38513054..38513396hg19UCSC Ensembl
Innerchr20:37946528..37946727hg18UCSC Ensembl
Outerchr20:37946468..37946810hg18UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg38343
hg19343
hg18343
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2056543
Supporting Variants
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)essv4990760
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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