A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1970766



Internal ID608860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:120887788..120888092hg38UCSC Ensembl
Outerchr4:120887576..120888294hg38UCSC Ensembl
Innerchr4:121808943..121809247hg19UCSC Ensembl
Outerchr4:121808731..121809449hg19UCSC Ensembl
Innerchr4:122028393..122028697hg18UCSC Ensembl
Outerchr4:122028181..122028899hg18UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg38719
hg19719
hg18719
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4687973
SamplesNA18507
Known GenesPRDM5
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)esv1970766
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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