A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161295



Internal ID7906009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:19109497..19353437hg38UCSC Ensembl
Innerchr12:19262431..19506371hg19UCSC Ensembl
Innerchr12:19153698..19397638hg18UCSC Ensembl
Innerchr12:19153698..19397638hg17UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38243941
hg19243941
hg18243941
hg17243941
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422261
Supporting Variants
SamplesND03970
Known GenesPLEKHA5
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)essv5161295
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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