A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2256616



Internal ID7581041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:124960253..124960348hg38UCSC Ensembl
Outerchr11:124960055..124960545hg38UCSC Ensembl
Innerchr11:124830149..124830244hg19UCSC Ensembl
Outerchr11:124829951..124830441hg19UCSC Ensembl
Innerchr11:124335359..124335454hg18UCSC Ensembl
Outerchr11:124335161..124335651hg18UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg38491
hg19491
hg18491
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4868934
SamplesNA18507
Known GenesCCDC15
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)esv2256616
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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