A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3398903



Internal ID15245866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:52023096..52026094hg38UCSC Ensembl
Innerchr3:52024096..52025094hg38UCSC Ensembl
Outerchr3:52022096..52027094hg38UCSC Ensembl
chr3:52057112..52060110hg19UCSC Ensembl
Innerchr3:52058112..52059110hg19UCSC Ensembl
Outerchr3:52056112..52061110hg19UCSC Ensembl
chr3:52032152..52035150hg18UCSC Ensembl
Innerchr3:52033152..52034150hg18UCSC Ensembl
Outerchr3:52031152..52036150hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg382999
hg192999
hg182999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8694096
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3398903
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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