A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692550



Internal ID15032775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:45660399..45662397hg38UCSC Ensembl
Innerchr20:45661397..45661399hg38UCSC Ensembl
Outerchr20:45659399..45663397hg38UCSC Ensembl
chr20:44289038..44291036hg19UCSC Ensembl
Innerchr20:44290036..44290038hg19UCSC Ensembl
Outerchr20:44288038..44292036hg19UCSC Ensembl
chr20:43722452..43724450hg18UCSC Ensembl
Innerchr20:43723452..43723450hg18UCSC Ensembl
Outerchr20:43721452..43725450hg18UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg381999
hg191999
hg181999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3444784
Supporting Variants
SamplesNA19238
Known GenesWFDC11
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692550
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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