A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7866168



Internal ID14396214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:47820865..47820870hg38UCSC Ensembl
Innerchr20:47820852..47820883hg38UCSC Ensembl
Outerchr20:47820847..47820888hg38UCSC Ensembl
chr20:46449609..46449614hg19UCSC Ensembl
Innerchr20:46449596..46449627hg19UCSC Ensembl
Outerchr20:46449591..46449632hg19UCSC Ensembl
chr20:45883016..45883021hg18UCSC Ensembl
Innerchr20:45883034..45883003hg18UCSC Ensembl
Outerchr20:45882998..45883039hg18UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3857
hg1957
hg1857
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3384400
Supporting Variants
SamplesNA18871
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7866168
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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