A curated catalogue of human genomic structural variation




Variant Details

Variant: esv23564



Internal ID110093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:48900493..48901627hg19UCSC Ensembl
Innerchr19:53592305..53593439hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsesv17247
SamplesNA12044
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)esv23564
Frequency
Sample Size451
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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