A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1003991



Internal ID1859336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:189363395..189371223hg19UCSC Ensembl
Outerchr3:190846089..190853917hg18UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg196985
hg186985
Variant TypeCNV Deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv3564003
SamplesHuRef
Known GenesTP63
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)esv1003991
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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