A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3452014



Internal ID14952273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:122386131..122386145hg38UCSC Ensembl
Innerchr9:122386106..122386170hg38UCSC Ensembl
Outerchr9:122386092..122386184hg38UCSC Ensembl
chr9:125148410..125148424hg19UCSC Ensembl
Innerchr9:125148385..125148449hg19UCSC Ensembl
Outerchr9:125148371..125148463hg19UCSC Ensembl
chr9:124188231..124188245hg18UCSC Ensembl
Innerchr9:124188270..124188206hg18UCSC Ensembl
Outerchr9:124188192..124188284hg18UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864981
SamplesNA12005
Known GenesPTGS1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3452014
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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