A curated catalogue of human genomic structural variation




Variant Details

Variant: esv22131



Internal ID111629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:52692555..52696215hg19UCSC Ensembl
Innerchr19:57384367..57388027hg18UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsesv21017
SamplesNA12239
Known GenesPPP2R1A
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)esv22131
Frequency
Sample Size451
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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