A curated catalogue of human genomic structural variation




Variant Details

Variant: esv25255



Internal ID108294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:48945957..48947285hg19UCSC Ensembl
Innerchr19:53637769..53639097hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsesv12429
SamplesNA18511
Known GenesGRIN2D
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)esv25255
Frequency
Sample Size451
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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