A curated catalogue of human genomic structural variation




Variant Details

Variant: esv25901



Internal ID106908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:191995259..191998686hg19UCSC Ensembl
Innerchr2:191703504..191706931hg18UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsesv20634
SamplesNA18517, NA19257, NA19225
Known GenesSTAT4
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)esv25901
Frequency
Sample Size451
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer