A curated catalogue of human genomic structural variation




Variant Details

Variant: esv29967



Internal ID112876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52678900..52785533hg19UCSC Ensembl
Innerchr12:50965167..51071800hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv84206
SamplesHuRef
Known GenesKRT81, KRT83, KRT84, KRT85, KRT86
Method
AnalysisA set of calls produced from all analyses.
PlatformIllumina HumanHap650Y Genotyping BeadChip + Agilent Custom High-Definition-CGH Microarray + [Mapping250K_Sty] Affymetrix Mapping 250K Sty2 SNP Array + [Mapping250K_Nsp] Affymetrix Mapping 250K Nsp SNP Array + Nimblegen human whole-genome 385K CGH array
Comments
ReferenceLevy et al 2007
Pubmed ID17803354
Accession Number(s)esv29967
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer