A curated catalogue of human genomic structural variation




Variant Details

Variant: esv28511



Internal ID111791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:67509507..67513143hg19UCSC Ensembl
Innerchr5:67545263..67548899hg18UCSC Ensembl
Cytoband5q13.1
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsesv16752
SamplesNA18511, NA12414
Known GenesPIK3R1
Method
AnalysisAt the top level of the hierarchy, all contiguous bases overlapping at least 1bp of a CNV call are merged into a “CNV region” (CNVR).
PlatformSanger H. Sapiens NimbleGen 42M CGH Array
Comments
ReferenceConrad et al 2009
Pubmed ID19812545
Accession Number(s)esv28511
Frequency
Sample Size451
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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