A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6e196



Internal ID20123205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7670828..7920436hg38UCSC Ensembl
chr12:7823424..8073032hg19UCSC Ensembl
chr12:7714691..7964299hg18UCSC Ensembl
chr12:7714691..7964299hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38249609
hg19249609
hg18249609
hg17249609
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2422371, esv2422236, esv2422242, esv2422336, esv2422192
SamplesND01580, ND03710, ND01695, ND05052, ND01613
Known GenesCLEC4C, 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)dgv6e196
Frequency
Sample Size181
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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