A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2351050



Internal ID989143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:64327365..64327539hg38UCSC Ensembl
Outerchr14:64327212..64327681hg38UCSC Ensembl
Innerchr14:64794083..64794257hg19UCSC Ensembl
Outerchr14:64793930..64794399hg19UCSC Ensembl
Innerchr14:63863836..63864010hg18UCSC Ensembl
Outerchr14:63863683..63864152hg18UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg38470
hg19470
hg18470
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4678531
SamplesNA18507
Known GenesESR2, MIR548AZ
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)esv2351050
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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