A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2302049



Internal ID7626474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:114554183..114561205hg38UCSC Ensembl
Outerchr11:114553995..114561371hg38UCSC Ensembl
Innerchr11:114424905..114431927hg19UCSC Ensembl
Outerchr11:114424717..114432093hg19UCSC Ensembl
Innerchr11:113930115..113937137hg18UCSC Ensembl
Outerchr11:113929927..113937303hg18UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg387377
hg197377
hg187377
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4602149
SamplesNA18507
Known GenesNXPE1
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)esv2302049
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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