A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161434



Internal ID7906148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7679970..7954221hg38UCSC Ensembl
Innerchr12:7832566..8106817hg19UCSC Ensembl
Innerchr12:7723833..7998084hg18UCSC Ensembl
Innerchr12:7723833..7998084hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38274252
hg19274252
hg18274252
hg17274252
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422200
Supporting Variants
SamplesND03532
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)essv5161434
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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