A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3342920



Internal ID14843188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:114133624..114133683hg38UCSC Ensembl
Innerchr3:114133638..114133669hg38UCSC Ensembl
Outerchr3:114133610..114133697hg38UCSC Ensembl
chr3:113852471..113852530hg19UCSC Ensembl
Innerchr3:113852485..113852516hg19UCSC Ensembl
Outerchr3:113852457..113852544hg19UCSC Ensembl
chr3:115335161..115335220hg18UCSC Ensembl
Innerchr3:115335175..115335206hg18UCSC Ensembl
Outerchr3:115335147..115335234hg18UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg3859
hg1959
hg1859
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8671076
SamplesNA12878
Known GenesDRD3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3342920
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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