A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693839



Internal ID15076826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:129369419..129371117hg38UCSC Ensembl
Innerchr3:129370117..129370419hg38UCSC Ensembl
Outerchr3:129368419..129372117hg38UCSC Ensembl
chr3:129088262..129089960hg19UCSC Ensembl
Innerchr3:129088960..129089262hg19UCSC Ensembl
Outerchr3:129087262..129090960hg19UCSC Ensembl
chr3:130570952..130572650hg18UCSC Ensembl
Innerchr3:130571952..130571650hg18UCSC Ensembl
Outerchr3:130569952..130573650hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg381699
hg191699
hg181699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3388276
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693839
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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