A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692568



Internal ID15032847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:56710689..56711187hg38UCSC Ensembl
Innerchr20:56710688..56711188hg38UCSC Ensembl
Outerchr20:56709689..56712187hg38UCSC Ensembl
chr20:55285745..55286243hg19UCSC Ensembl
Innerchr20:55285744..55286244hg19UCSC Ensembl
Outerchr20:55284745..55287243hg19UCSC Ensembl
chr20:54719152..54719650hg18UCSC Ensembl
Innerchr20:54719651..54719151hg18UCSC Ensembl
Outerchr20:54718152..54720650hg18UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg38499
hg19499
hg18499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3363844
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692568
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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