A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302515



Internal ID14802776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:114133609..114133670hg38UCSC Ensembl
Innerchr3:114133639..114133639hg38UCSC Ensembl
Outerchr3:114133509..114133770hg38UCSC Ensembl
chr3:113852456..113852517hg19UCSC Ensembl
Innerchr3:113852486..113852486hg19UCSC Ensembl
Outerchr3:113852356..113852617hg19UCSC Ensembl
chr3:115335146..115335207hg18UCSC Ensembl
Innerchr3:115335176..115335176hg18UCSC Ensembl
Outerchr3:115335046..115335307hg18UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg3862
hg1962
hg1862
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7731395
SamplesNA12878
Known GenesDRD3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302515
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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