A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1957313



Internal ID7281739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:44732838..44733048hg38UCSC Ensembl
Outerchr22:44732793..44733111hg38UCSC Ensembl
Innerchr22:45128718..45128928hg19UCSC Ensembl
Outerchr22:45128673..45128991hg19UCSC Ensembl
Innerchr22:43507382..43507592hg18UCSC Ensembl
Outerchr22:43507337..43507655hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38319
hg19319
hg18319
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4669509
SamplesNA18507
Known GenesPRR5, PRR5-ARHGAP8
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)esv1957313
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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