A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3426078



Internal ID15273035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:60035567..60035587hg38UCSC Ensembl
Innerchr20:60035569..60035585hg38UCSC Ensembl
Outerchr20:60035565..60035589hg38UCSC Ensembl
chr20:58610622..58610642hg19UCSC Ensembl
Innerchr20:58610624..58610640hg19UCSC Ensembl
Outerchr20:58610620..58610644hg19UCSC Ensembl
chr20:58044017..58044037hg18UCSC Ensembl
Innerchr20:58044019..58044035hg18UCSC Ensembl
Outerchr20:58044015..58044039hg18UCSC Ensembl
Cytoband20q13.33
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 Variantsessv7866174
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3426078
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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