A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2058983



Internal ID7730094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:113064740..113065228hg38UCSC Ensembl
Outerchr4:113064648..113065310hg38UCSC Ensembl
Innerchr4:113985896..113986384hg19UCSC Ensembl
Outerchr4:113985804..113986466hg19UCSC Ensembl
Innerchr4:114205345..114205833hg18UCSC Ensembl
Outerchr4:114205253..114205915hg18UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg38663
hg19663
hg18663
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4661397
SamplesNA18507
Known GenesANK2
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)esv2058983
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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