A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161508



Internal ID8252773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:2037397..2606201hg38UCSC Ensembl
Innerchr8:1985539..2463292hg19UCSC Ensembl
Innerchr8:1972946..2450699hg18UCSC Ensembl
Innerchr8:1972946..2450699hg17UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg38568805
hg19477754
hg18477754
hg17477754
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422414
Supporting Variants
SamplesND02645
Known GenesMIR7160, MYOM2
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)essv5161508
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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