A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692440



Internal ID15032365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:11368804..11369902hg38UCSC Ensembl
Innerchr20:11368902..11369804hg38UCSC Ensembl
Outerchr20:11367804..11370902hg38UCSC Ensembl
chr20:11349452..11350550hg19UCSC Ensembl
Innerchr20:11349550..11350452hg19UCSC Ensembl
Outerchr20:11348452..11351550hg19UCSC Ensembl
chr20:11297452..11298550hg18UCSC Ensembl
Innerchr20:11298452..11297550hg18UCSC Ensembl
Outerchr20:11296452..11299550hg18UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg381099
hg191099
hg181099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3388930
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692440
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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