A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422371



Internal ID7906468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7670828..7881087hg38UCSC Ensembl
Innerchr12:7823424..8033683hg19UCSC Ensembl
Innerchr12:7714691..7924950hg18UCSC Ensembl
Innerchr12:7714691..7924950hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38210260
hg19210260
hg18210260
hg17210260
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6e196
Supporting Variantsessv5161518
SamplesND01613
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)esv2422371
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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