A curated catalogue of human genomic structural variation




Variant Details

Variant: esv274665



Internal ID1810277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:74272291..74272964hg19UCSC Ensembl
Outerchr4:74272245..74273010hg19UCSC Ensembl
Innerchr4:74491155..74491828hg18UCSC Ensembl
Outerchr4:74491109..74491874hg18UCSC Ensembl
Cytoband4q13.3
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 Variantsessv2581605
SamplesNA12878
Known GenesALB
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)esv274665
Frequency
Sample Size157
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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