A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1952279



Internal ID7625923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:93844841..93845053hg38UCSC Ensembl
Outerchr11:93844652..93845242hg38UCSC Ensembl
Innerchr11:93578007..93578219hg19UCSC Ensembl
Outerchr11:93577818..93578408hg19UCSC Ensembl
Innerchr11:93217655..93217867hg18UCSC Ensembl
Outerchr11:93217466..93218056hg18UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg38591
hg19591
hg18591
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4685994
SamplesNA18507
Known GenesVSTM5
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)esv1952279
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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