A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422336



Internal ID7906433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7679970..7899600hg38UCSC Ensembl
Innerchr12:7832566..8052196hg19UCSC Ensembl
Innerchr12:7723833..7943463hg18UCSC Ensembl
Innerchr12:7723833..7943463hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38219631
hg19219631
hg18219631
hg17219631
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6e196
Supporting Variantsessv5161317
SamplesND01695
Known GenesCLEC4C, 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)esv2422336
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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