A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4930791



Internal ID7169737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:415323..415541hg38UCSC Ensembl
Outerchr5:415240..415638hg38UCSC Ensembl
Innerchr5:415438..415656hg19UCSC Ensembl
Outerchr5:415355..415753hg19UCSC Ensembl
Innerchr5:468438..468656hg18UCSC Ensembl
Outerchr5:468355..468753hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38399
hg19399
hg18399
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2095296
Supporting Variants
SamplesNA18507
Known GenesAHRR
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)essv4930791
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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