A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3392090



Internal ID14892369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:169473248..169473262hg38UCSC Ensembl
Innerchr4:169473255..169473255hg38UCSC Ensembl
Outerchr4:169473241..169473269hg38UCSC Ensembl
chr4:170394399..170394413hg19UCSC Ensembl
Innerchr4:170394406..170394406hg19UCSC Ensembl
Outerchr4:170394392..170394420hg19UCSC Ensembl
chr4:170630974..170630988hg18UCSC Ensembl
Innerchr4:170630981..170630981hg18UCSC Ensembl
Outerchr4:170630967..170630995hg18UCSC Ensembl
Cytoband4q33
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 Variantsessv7864393
SamplesNA12005
Known GenesNEK1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3392090
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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