A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3335108



Internal ID15182098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:32562873..32563407hg38UCSC Ensembl
Innerchr20:32562873..32563407hg38UCSC Ensembl
Outerchr20:32562845..32563425hg38UCSC Ensembl
chr20:31150675..31151209hg19UCSC Ensembl
Innerchr20:31150675..31151209hg19UCSC Ensembl
Outerchr20:31150647..31151227hg19UCSC Ensembl
chr20:30614336..30614870hg18UCSC Ensembl
Innerchr20:30614336..30614870hg18UCSC Ensembl
Outerchr20:30614308..30614888hg18UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg38535
hg19535
hg18535
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8652110
SamplesNA19240
Known GenesC20orf112
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3335108
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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