A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3376148



Internal ID14876413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:47578587..47581285hg38UCSC Ensembl
Innerchr17:47579587..47580285hg38UCSC Ensembl
Outerchr17:47577587..47582285hg38UCSC Ensembl
chr17:45655953..45658651hg19UCSC Ensembl
Innerchr17:45656953..45657651hg19UCSC Ensembl
Outerchr17:45654953..45659651hg19UCSC Ensembl
chr17:43010952..43013650hg18UCSC Ensembl
Innerchr17:43011952..43012650hg18UCSC Ensembl
Outerchr17:43009952..43014650hg18UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg382699
hg192699
hg182699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8690944
SamplesNA19238
Known GenesNPEPPS
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3376148
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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