A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422452



Internal ID7906549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:72092153..72781801hg38UCSC Ensembl
Innerchr12:72485933..73175581hg19UCSC Ensembl
Innerchr12:70772200..71461848hg18UCSC Ensembl
Innerchr12:70772200..71461848hg17UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg38689649
hg19689649
hg18689649
hg17689649
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5161312
SamplesND01693
Known GenesTRHDE, TRHDE-AS1
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)esv2422452
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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