A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3347297



Internal ID15194279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:197032884..197035282hg38UCSC Ensembl
Innerchr3:197033884..197034282hg38UCSC Ensembl
Outerchr3:197031884..197036282hg38UCSC Ensembl
chr3:196759755..196762153hg19UCSC Ensembl
Innerchr3:196760755..196761153hg19UCSC Ensembl
Outerchr3:196758755..196763153hg19UCSC Ensembl
chr3:198244152..198246550hg18UCSC Ensembl
Innerchr3:198245152..198245550hg18UCSC Ensembl
Outerchr3:198243152..198247550hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg382399
hg192399
hg182399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2899e59
Supporting Variantsessv8694001
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3347297
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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