A curated catalogue of human genomic structural variation




Variant Details

Variant: esv273358



Internal ID1809738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:5411670..5411936hg19UCSC Ensembl
Outerchr18:5411634..5411972hg19UCSC Ensembl
Innerchr18:5401670..5401936hg18UCSC Ensembl
Outerchr18:5401634..5401972hg18UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv2584186, essv2583836
SamplesNA19238, NA19240
Known GenesEPB41L3
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)esv273358
Frequency
Sample Size157
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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