A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7732277



Internal ID13636268
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
SamplesNA18545
Known GenesMYBL2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7732277
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer