A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692458



Internal ID15032433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:22010714..22012112hg38UCSC Ensembl
Innerchr20:22011112..22011714hg38UCSC Ensembl
Outerchr20:22009714..22013112hg38UCSC Ensembl
chr20:21991352..21992750hg19UCSC Ensembl
Innerchr20:21991750..21992352hg19UCSC Ensembl
Outerchr20:21990352..21993750hg19UCSC Ensembl
chr20:21939352..21940750hg18UCSC Ensembl
Innerchr20:21940352..21939750hg18UCSC Ensembl
Outerchr20:21938352..21941750hg18UCSC Ensembl
Cytoband20p11.22
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3363983
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692458
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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