A curated catalogue of human genomic structural variation




Variant Details

Variant: esv268973



Internal ID1793535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:20630836..20630843hg19UCSC Ensembl
Outerchr13:20630797..20630882hg19UCSC Ensembl
Innerchr13:19528843..19528836hg18UCSC Ensembl
Outerchr13:19528797..19528882hg18UCSC Ensembl
Cytoband13q12.11
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 Variantsessv2513793
SamplesNA19143
Known GenesZMYM2
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)esv268973
Frequency
Sample Size157
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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