A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422312



Internal ID7906409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:24366458..25068752hg38UCSC Ensembl
Innerchr12:24519392..25221686hg19UCSC Ensembl
Innerchr12:24410659..25112953hg18UCSC Ensembl
Innerchr12:24410659..25112953hg17UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38702295
hg19702295
hg18702295
hg17702295
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5161530
SamplesND03463
Known GenesBCAT1, C12orf77, LINC00477, LRMP, SOX5
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)esv2422312
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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