A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693838



Internal ID15008731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:129369319..129371217hg38UCSC Ensembl
Innerchr3:129370217..129370319hg38UCSC Ensembl
Outerchr3:129368319..129372217hg38UCSC Ensembl
chr3:129088162..129090060hg19UCSC Ensembl
Innerchr3:129089060..129089162hg19UCSC Ensembl
Outerchr3:129087162..129091060hg19UCSC Ensembl
chr3:130570852..130572750hg18UCSC Ensembl
Innerchr3:130571852..130571750hg18UCSC Ensembl
Outerchr3:130569852..130573750hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg381899
hg191899
hg181899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3332438
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693838
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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