A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3409883



Internal ID15256843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:14328818..14328867hg38UCSC Ensembl
Innerchr20:14328741..14328944hg38UCSC Ensembl
Outerchr20:14328692..14328993hg38UCSC Ensembl
chr20:14309464..14309513hg19UCSC Ensembl
Innerchr20:14309387..14309590hg19UCSC Ensembl
Outerchr20:14309338..14309639hg19UCSC Ensembl
chr20:14257464..14257513hg18UCSC Ensembl
Innerchr20:14257590..14257387hg18UCSC Ensembl
Outerchr20:14257338..14257639hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7863550
SamplesNA18516
Known GenesFLRT3, MACROD2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3409883
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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