A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422242



Internal ID7906339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7702565..7901160hg38UCSC Ensembl
Innerchr12:7855161..8053756hg19UCSC Ensembl
Innerchr12:7746428..7945023hg18UCSC Ensembl
Innerchr12:7746428..7945023hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38198596
hg19198596
hg18198596
hg17198596
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6e196
Supporting Variantsessv5161356
SamplesND05052
Known GenesCLEC4C, DPPA3, 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)esv2422242
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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