A curated catalogue of human genomic structural variation




Variant Details

Variant: esv268285



Internal ID1793228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:155506626..155506789hg19UCSC Ensembl
Outerchr4:155506556..155506859hg19UCSC Ensembl
Innerchr4:155726076..155726239hg18UCSC Ensembl
Outerchr4:155726006..155726309hg18UCSC Ensembl
Cytoband4q31.3
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 Variantsessv2507164, essv2510634, essv2496440
SamplesNA18870, NA18501, NA18510
Known GenesFGA
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)esv268285
Frequency
Sample Size157
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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