A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3428745



Internal ID14929015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:33827131..33827209hg38UCSC Ensembl
Innerchr5:33827130..33827210hg38UCSC Ensembl
Outerchr5:33827021..33827329hg38UCSC Ensembl
chr5:33827236..33827314hg19UCSC Ensembl
Innerchr5:33827235..33827315hg19UCSC Ensembl
Outerchr5:33827126..33827434hg19UCSC Ensembl
chr5:33862993..33863071hg18UCSC Ensembl
Innerchr5:33863072..33862992hg18UCSC Ensembl
Outerchr5:33862883..33863191hg18UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg3879
hg1979
hg1879
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8809326
SamplesNA12878
Known GenesADAMTS12
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3428745
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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