A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2267873



Internal ID7592298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:35196062..35196090hg38UCSC Ensembl
Outerchr5:35195848..35196301hg38UCSC Ensembl
Innerchr5:35196164..35196192hg19UCSC Ensembl
Outerchr5:35195950..35196403hg19UCSC Ensembl
Innerchr5:35231921..35231949hg18UCSC Ensembl
Outerchr5:35231707..35232160hg18UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38454
hg19454
hg18454
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4539001
SamplesNA18507
Known GenesPRLR
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)esv2267873
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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