A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8652110



Internal ID15101797
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 StatusS
Merged Variantsesv3335108
Supporting Variants
SamplesNA19240
Known GenesC20orf112
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8652110
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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