A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3400822



Internal ID14901099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:89460312..89461010hg38UCSC Ensembl
Innerchr3:89460311..89461011hg38UCSC Ensembl
Outerchr3:89459312..89462010hg38UCSC Ensembl
chr3:89509462..89510160hg19UCSC Ensembl
Innerchr3:89509461..89510161hg19UCSC Ensembl
Outerchr3:89508462..89511160hg19UCSC Ensembl
chr3:89592152..89592850hg18UCSC Ensembl
Innerchr3:89592851..89592151hg18UCSC Ensembl
Outerchr3:89591152..89593850hg18UCSC Ensembl
Cytoband3p11.1
Allele length
AssemblyAllele length
hg38699
hg19699
hg18699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8694166
SamplesNA19239
Known GenesEPHA3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3400822
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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