A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7731491



Internal ID13623842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:179962010..179962067hg38UCSC Ensembl
Innerchr3:179962038..179962039hg38UCSC Ensembl
Outerchr3:179961910..179962167hg38UCSC Ensembl
chr3:179679798..179679855hg19UCSC Ensembl
Innerchr3:179679826..179679827hg19UCSC Ensembl
Outerchr3:179679698..179679955hg19UCSC Ensembl
chr3:181162492..181162549hg18UCSC Ensembl
Innerchr3:181162521..181162520hg18UCSC Ensembl
Outerchr3:181162392..181162649hg18UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg3858
hg1958
hg1858
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302536
Supporting Variants
SamplesNA12878
Known GenesPEX5L
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7731491
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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