A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5e196



Internal ID20123204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7621924..7954221hg38UCSC Ensembl
chr12:7774520..8106817hg19UCSC Ensembl
chr12:7665787..7998084hg18UCSC Ensembl
chr12:7665787..7998084hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38332298
hg19332298
hg18332298
hg17332298
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2422373, esv2422200, esv2422501
SamplesND03532, ND01701, ND05071
Known GenesAPOBEC1, CLEC4C, DPPA3, GDF3, NANOG, NANOGNB, SLC2A14, SLC2A3
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)dgv5e196
Frequency
Sample Size181
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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