A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3353750



Internal ID15200731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:179962072..179962072hg38UCSC Ensembl
Innerchr3:179962071..179962073hg38UCSC Ensembl
Outerchr3:179962012..179962122hg38UCSC Ensembl
chr3:179679860..179679860hg19UCSC Ensembl
Innerchr3:179679859..179679861hg19UCSC Ensembl
Outerchr3:179679800..179679910hg19UCSC Ensembl
chr3:181162554..181162554hg18UCSC Ensembl
Innerchr3:181162555..181162553hg18UCSC Ensembl
Outerchr3:181162494..181162604hg18UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg3856
hg1956
hg1856
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8831269
SamplesNA12878
Known GenesPEX5L
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3353750
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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