A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3371992



Internal ID15218968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:45517356..45519254hg38UCSC Ensembl
Innerchr3:45518254..45518356hg38UCSC Ensembl
Outerchr3:45516356..45520254hg38UCSC Ensembl
chr3:45558848..45560746hg19UCSC Ensembl
Innerchr3:45559746..45559848hg19UCSC Ensembl
Outerchr3:45557848..45561746hg19UCSC Ensembl
chr3:45533852..45535750hg18UCSC Ensembl
Innerchr3:45534852..45534750hg18UCSC Ensembl
Outerchr3:45532852..45536750hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg381899
hg191899
hg181899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8694075
SamplesNA19239
Known GenesLARS2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3371992
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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