A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161340



Internal ID7906054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:62207833..62674040hg38UCSC Ensembl
Innerchr20:60782889..61305392hg19UCSC Ensembl
Innerchr20:60216284..60775837hg18UCSC Ensembl
Innerchr20:60216284..60775837hg17UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38466208
hg19522504
hg18559554
hg17559554
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422398
Supporting Variants
SamplesND01424
Known GenesADRM1, C20orf166, C20orf166-AS1, CABLES2, GATA5, HRH3, LAMA5, LOC100127888, MIR1-1, MIR133A2, MIR4758, OSBPL2, RBBP8NL, RPS21, SLCO4A1
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)essv5161340
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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