A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8976294



Internal ID13826202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:60063065..60063093hg38UCSC Ensembl
Innerchr20:60063070..60063086hg38UCSC Ensembl
Outerchr20:60063042..60063116hg38UCSC Ensembl
chr20:58638120..58638148hg19UCSC Ensembl
Innerchr20:58638125..58638141hg19UCSC Ensembl
Outerchr20:58638097..58638171hg19UCSC Ensembl
chr20:58071515..58071543hg18UCSC Ensembl
Innerchr20:58071536..58071520hg18UCSC Ensembl
Outerchr20:58071492..58071566hg18UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38266
hg19266
hg18266
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3440988
Supporting Variants
SamplesNA18507
Known GenesC20orf197
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8976294
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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