A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1980466



Internal ID7304891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:88760316..88760640hg38UCSC Ensembl
Outerchr4:88760120..88760825hg38UCSC Ensembl
Innerchr4:89681467..89681791hg19UCSC Ensembl
Outerchr4:89681271..89681976hg19UCSC Ensembl
Innerchr4:89900490..89900814hg18UCSC Ensembl
Outerchr4:89900294..89900999hg18UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg38706
hg19706
hg18706
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4974038
SamplesNA18507
Known GenesFAM13A
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)esv1980466
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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