A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422373



Internal ID7906470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7621924..7917493hg38UCSC Ensembl
Innerchr12:7774520..8070089hg19UCSC Ensembl
Innerchr12:7665787..7961356hg18UCSC Ensembl
Innerchr12:7665787..7961356hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38295570
hg19295570
hg18295570
hg17295570
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5e196
Supporting Variantsessv5161300
SamplesND05071
Known GenesAPOBEC1, CLEC4C, DPPA3, GDF3, NANOG, NANOGNB, SLC2A14
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)esv2422373
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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