A curated catalogue of human genomic structural variation




Variant Details

Variant: esv987535



Internal ID1847290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:46119074..46119517hg19UCSC Ensembl
Innerchr11:46075650..46076093hg18UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg19444
hg18444
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv3587088
SamplesHuRef
Known GenesPHF21A
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)esv987535
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