A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305840



Internal ID15152788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:6079344..6079345hg38UCSC Ensembl
Innerchr20:6079310..6079379hg38UCSC Ensembl
Outerchr20:6079309..6079380hg38UCSC Ensembl
chr20:6059991..6059992hg19UCSC Ensembl
Innerchr20:6059957..6060026hg19UCSC Ensembl
Outerchr20:6059956..6060027hg19UCSC Ensembl
chr20:6007991..6007992hg18UCSC Ensembl
Innerchr20:6008026..6007957hg18UCSC Ensembl
Outerchr20:6007956..6008027hg18UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg38174
hg19174
hg18174
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7743262, essv7742349, essv7746414, essv7762149
SamplesNA18519, NA18489, NA18916, NA18858
Known GenesFERMT1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305840
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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