A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3370198



Internal ID15217174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:93791218..93800116hg38UCSC Ensembl
Innerchr3:93792218..93799116hg38UCSC Ensembl
Outerchr3:93790218..93801116hg38UCSC Ensembl
chr3:93510062..93518960hg19UCSC Ensembl
Innerchr3:93511062..93517960hg19UCSC Ensembl
Outerchr3:93509062..93519960hg19UCSC Ensembl
chr3:94992752..95001650hg18UCSC Ensembl
Innerchr3:94993752..95000650hg18UCSC Ensembl
Outerchr3:94991752..95002650hg18UCSC Ensembl
Cytoband3q11.1
Allele length
AssemblyAllele length
hg388899
hg198899
hg188899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2744e59
Supporting Variantsessv8694182
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3370198
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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