A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3387653



Internal ID15234622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:105935064..105937162hg38UCSC Ensembl
Innerchr2:105936064..105936162hg38UCSC Ensembl
Outerchr2:105934064..105938162hg38UCSC Ensembl
chr2:106551520..106553618hg19UCSC Ensembl
Innerchr2:106552520..106552618hg19UCSC Ensembl
Outerchr2:106550520..106554618hg19UCSC Ensembl
chr2:105917952..105920050hg18UCSC Ensembl
Innerchr2:105918952..105919050hg18UCSC Ensembl
Outerchr2:105916952..105921050hg18UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg382099
hg192099
hg182099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8693359
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3387653
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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