A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1954118



Internal ID7278544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:45101666..45102378hg38UCSC Ensembl
Outerchr11:45101596..45102455hg38UCSC Ensembl
Innerchr11:45123217..45123929hg19UCSC Ensembl
Outerchr11:45123147..45124006hg19UCSC Ensembl
Innerchr11:45079793..45080505hg18UCSC Ensembl
Outerchr11:45079723..45080582hg18UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38860
hg19860
hg18860
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4517061
SamplesNA18507
Known GenesPRDM11
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)esv1954118
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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