A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693837



Internal ID15039209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:129369319..129371117hg38UCSC Ensembl
Innerchr3:129370117..129370319hg38UCSC Ensembl
Outerchr3:129368319..129372117hg38UCSC Ensembl
chr3:129088162..129089960hg19UCSC Ensembl
Innerchr3:129088960..129089162hg19UCSC Ensembl
Outerchr3:129087162..129090960hg19UCSC Ensembl
chr3:130570852..130572650hg18UCSC Ensembl
Innerchr3:130571852..130571650hg18UCSC Ensembl
Outerchr3:130569852..130573650hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg381799
hg191799
hg181799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3413638
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693837
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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