A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2289340



Internal ID927433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:189878695..189879013hg38UCSC Ensembl
Outerchr3:189878644..189879080hg38UCSC Ensembl
Innerchr3:189596484..189596802hg19UCSC Ensembl
Outerchr3:189596433..189596869hg19UCSC Ensembl
Innerchr3:191079178..191079496hg18UCSC Ensembl
Outerchr3:191079127..191079563hg18UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg38437
hg19437
hg18437
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4538950
SamplesNA18507
Known GenesTP63
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)esv2289340
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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