A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4919521



Internal ID7158467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:69300572..69300653hg38UCSC Ensembl
Outerchr15:69300391..69300868hg38UCSC Ensembl
Innerchr15:69592911..69592992hg19UCSC Ensembl
Outerchr15:69592730..69593207hg19UCSC Ensembl
Innerchr15:67379965..67380046hg18UCSC Ensembl
Outerchr15:67379784..67380261hg18UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg38478
hg19478
hg18478
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2343800
Supporting Variants
SamplesNA18507
Known GenesPAQR5
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)essv4919521
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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