A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2057444



Internal ID7728556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:393034..393168hg38UCSC Ensembl
Outerchr20:392894..393306hg38UCSC Ensembl
Innerchr20:373678..373812hg19UCSC Ensembl
Outerchr20:373538..373950hg19UCSC Ensembl
Innerchr20:321678..321812hg18UCSC Ensembl
Outerchr20:321538..321950hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38413
hg19413
hg18413
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4608013
SamplesNA18507
Known GenesTRIB3
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)esv2057444
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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