A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161426



Internal ID8252822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:85703345..85873503hg38UCSC Ensembl
Innerchr5:84999163..85169321hg19UCSC Ensembl
Innerchr5:85034919..85205077hg18UCSC Ensembl
Innerchr5:85034919..85205077hg17UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38170159
hg19170159
hg18170159
hg17170159
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422510
Supporting Variants
SamplesND03704
Known Genes
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)essv5161426
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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