A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8975084



Internal ID14369396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:6079334..6079360hg38UCSC Ensembl
Innerchr20:6079344..6079348hg38UCSC Ensembl
Outerchr20:6079318..6079374hg38UCSC Ensembl
chr20:6059981..6060007hg19UCSC Ensembl
Innerchr20:6059991..6059995hg19UCSC Ensembl
Outerchr20:6059965..6060021hg19UCSC Ensembl
chr20:6007981..6008007hg18UCSC Ensembl
Innerchr20:6007995..6007991hg18UCSC Ensembl
Outerchr20:6007965..6008021hg18UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg38168
hg19168
hg18168
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3426908
Supporting Variants
SamplesNA18858
Known GenesFERMT1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8975084
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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