A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1983936



Internal ID7655047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:114847096..114847411hg38UCSC Ensembl
Outerchr4:114846889..114847622hg38UCSC Ensembl
Innerchr4:115768252..115768567hg19UCSC Ensembl
Outerchr4:115768045..115768778hg19UCSC Ensembl
Innerchr4:115987701..115988016hg18UCSC Ensembl
Outerchr4:115987494..115988227hg18UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg38734
hg19734
hg18734
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4983410
SamplesNA18507
Known GenesNDST4
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)esv1983936
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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