A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7738476



Internal ID13900983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:43696630..43696933hg38UCSC Ensembl
Outerchr20:43696430..43697133hg38UCSC Ensembl
Innerchr20:42325270..42325573hg19UCSC Ensembl
Outerchr20:42325070..42325773hg19UCSC Ensembl
Innerchr20:41758684..41758987hg18UCSC Ensembl
Outerchr20:41758484..41759187hg18UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38704
hg19704
hg18704
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302967
Supporting Variants
SamplesNA18592
Known GenesMYBL2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7738476
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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