A curated catalogue of human genomic structural variation




Variant Details

Variant: esv270491



Internal ID1792863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:6292482..6292589hg19UCSC Ensembl
Outerchr4:6292402..6292669hg19UCSC Ensembl
Innerchr4:6343383..6343490hg18UCSC Ensembl
Outerchr4:6343303..6343570hg18UCSC Ensembl
Cytoband4p16.1
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 Variantsessv2497189, essv2500010
SamplesNA18558, NA18552
Known GenesWFS1
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)esv270491
Frequency
Sample Size157
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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