A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3366393



Internal ID15213370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:46788629..46789485hg38UCSC Ensembl
Innerchr20:46788629..46789485hg38UCSC Ensembl
Outerchr20:46788192..46789579hg38UCSC Ensembl
chr20:45417268..45418124hg19UCSC Ensembl
Innerchr20:45417268..45418124hg19UCSC Ensembl
Outerchr20:45416831..45418218hg19UCSC Ensembl
chr20:44850675..44851531hg18UCSC Ensembl
Innerchr20:44850675..44851531hg18UCSC Ensembl
Outerchr20:44850238..44851625hg18UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38857
hg19857
hg18857
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8652115
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3366393
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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