A curated catalogue of human genomic structural variation




Variant Details

Variant: esv272827



Internal ID1808440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:42300101..42300108hg19UCSC Ensembl
Outerchr18:42300062..42300147hg19UCSC Ensembl
Innerchr18:40554106..40554099hg18UCSC Ensembl
Outerchr18:40554060..40554145hg18UCSC Ensembl
Cytoband18q12.3
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 Variantsessv2581525
SamplesNA12878
Known GenesSETBP1
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)esv272827
Frequency
Sample Size157
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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