A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3332098



Internal ID15179086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:124763415..124765313hg38UCSC Ensembl
Innerchr3:124764313..124764415hg38UCSC Ensembl
Outerchr3:124762415..124766313hg38UCSC Ensembl
chr3:124482262..124484160hg19UCSC Ensembl
Innerchr3:124483160..124483262hg19UCSC Ensembl
Outerchr3:124481262..124485160hg19UCSC Ensembl
chr3:125964952..125966850hg18UCSC Ensembl
Innerchr3:125965952..125965850hg18UCSC Ensembl
Outerchr3:125963952..125967850hg18UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg381899
hg191899
hg181899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8693816
SamplesNA19239
Known GenesITGB5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3332098
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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