A curated catalogue of human genomic structural variation




Variant Details

Variant: esv28315



Internal ID109294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:151249350..151252921hg19UCSC Ensembl
Innerchr5:151229543..151233114hg18UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsesv11199
SamplesNA12489, NA18861, NA18523, NA18511, NA18517, NA19108, NA19129, NA18502, NA18858, NA18909, NA19225
Known GenesGLRA1
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)esv28315
Frequency
Sample Size451
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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