A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161339



Internal ID7906053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7709585..7899600hg38UCSC Ensembl
Innerchr12:7862181..8052196hg19UCSC Ensembl
Innerchr12:7753448..7943463hg18UCSC Ensembl
Innerchr12:7753448..7943463hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38190016
hg19190016
hg18190016
hg17190016
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422236
Supporting Variants
SamplesND01580
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)essv5161339
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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