A curated catalogue of human genomic structural variation




Variant Details

Variant: esv29390



Internal ID110826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:49001179..49002743hg19UCSC Ensembl
Innerchr13:47899180..47900744hg18UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsesv18037
SamplesNA12044
Known GenesLPAR6, RB1
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)esv29390
Frequency
Sample Size451
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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