A curated catalogue of human genomic structural variation




Variant Details

Variant: esv272818



Internal ID1809422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:151251836..151252085hg19UCSC Ensembl
Outerchr5:151251790..151252131hg19UCSC Ensembl
Innerchr5:151232029..151232278hg18UCSC Ensembl
Outerchr5:151231983..151232324hg18UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv2581060
SamplesNA19240
Known GenesGLRA1
Method
AnalysisAnalysis structural variant merging of all supporting structural variant calls generated by type of computational approach: read pair mapping and split read alignment.
Platform454 GS FLX + Illumina Genome Analyzer II
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv272818
Frequency
Sample Size157
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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