A curated catalogue of human genomic structural variation




Variant Details

Variant: esv994076



Internal ID1853398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:6251642..6253140hg19UCSC Ensembl
Outerchr10:6291648..6293146hg18UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg191052
hg181052
Variant TypeCNV Deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv3564993
SamplesHuRef
Known GenesPFKFB3
Method
Analysis
PlatformSanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv994076
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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