A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3441535



Internal ID14941802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:90490573..90490588hg38UCSC Ensembl
Innerchr5:90490575..90490586hg38UCSC Ensembl
Outerchr5:90490571..90490590hg38UCSC Ensembl
chr5:89786390..89786405hg19UCSC Ensembl
Innerchr5:89786392..89786403hg19UCSC Ensembl
Outerchr5:89786388..89786407hg19UCSC Ensembl
chr5:89822146..89822161hg18UCSC Ensembl
Innerchr5:89822148..89822159hg18UCSC Ensembl
Outerchr5:89822144..89822163hg18UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864488
SamplesNA12005
Known GenesPOLR3G
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3441535
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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