A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5077348



Internal ID8143674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:47133816..47135062hg38UCSC Ensembl
Innerchr12:47527599..47528845hg19UCSC Ensembl
Innerchr12:45813866..45815112hg18UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg381247
hg191247
hg181247
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2421679
Supporting Variants
SamplesNA18923
Known GenesPCED1B
MethodSNP array
AnalysisTo assess copy number variation we merged and analysed the probe level intensity data from both the Affymetrix and Illumina arrays.
PlatformNot specified
Comments
ReferenceAltshuler_et_al_2010
Pubmed ID20811451
Accession Number(s)essv5077348
Frequency
Sample Size1184
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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