A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161491



Internal ID7906205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:18800088..19411427hg38UCSC Ensembl
Innerchr12:18953022..19564361hg19UCSC Ensembl
Innerchr12:18844289..19455628hg18UCSC Ensembl
Innerchr12:18844289..19455628hg17UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38611340
hg19611340
hg18611340
hg17611340
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422206
Supporting Variants
SamplesND03704
Known GenesPLEKHA5
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)essv5161491
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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