A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422393



Internal ID7906490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7682970..7834994hg38UCSC Ensembl
Innerchr12:7835566..7987590hg19UCSC Ensembl
Innerchr12:7726833..7878857hg18UCSC Ensembl
Innerchr12:7726833..7878857hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38152025
hg19152025
hg18152025
hg17152025
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5161462
SamplesND01566
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)esv2422393
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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