A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7730959



Internal ID15010730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:147967508..147967717hg38UCSC Ensembl
Innerchr3:147967608..147967617hg38UCSC Ensembl
Outerchr3:147967408..147967817hg38UCSC Ensembl
chr3:147685295..147685504hg19UCSC Ensembl
Innerchr3:147685395..147685404hg19UCSC Ensembl
Outerchr3:147685195..147685604hg19UCSC Ensembl
chr3:149167985..149168194hg18UCSC Ensembl
Innerchr3:149168085..149168094hg18UCSC Ensembl
Outerchr3:149167885..149168294hg18UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg38210
hg19210
hg18210
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302440
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7730959
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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