A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692461



Internal ID15032456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:22870014..22872012hg38UCSC Ensembl
Innerchr20:22871012..22871014hg38UCSC Ensembl
Outerchr20:22869014..22873012hg38UCSC Ensembl
chr20:22850652..22852650hg19UCSC Ensembl
Innerchr20:22851650..22851652hg19UCSC Ensembl
Outerchr20:22849652..22853650hg19UCSC Ensembl
chr20:22798652..22800650hg18UCSC Ensembl
Innerchr20:22799652..22799650hg18UCSC Ensembl
Outerchr20:22797652..22801650hg18UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg381999
hg191999
hg181999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3328772
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692461
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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