A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3351274



Internal ID15198255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:169939230..169939243hg38UCSC Ensembl
Innerchr4:169939232..169939241hg38UCSC Ensembl
Outerchr4:169939228..169939245hg38UCSC Ensembl
chr4:170860381..170860394hg19UCSC Ensembl
Innerchr4:170860383..170860392hg19UCSC Ensembl
Outerchr4:170860379..170860396hg19UCSC Ensembl
chr4:171096956..171096969hg18UCSC Ensembl
Innerchr4:171096958..171096967hg18UCSC Ensembl
Outerchr4:171096954..171096971hg18UCSC Ensembl
Cytoband4q33
Allele length
AssemblyAllele length
hg3859
hg1959
hg1859
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864395
SamplesNA12005
Known GenesLOC100506085
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3351274
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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