A curated catalogue of human genomic structural variation




Variant Details

Variant: esv28935



Internal ID107741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:155180489..155221243hg19UCSC Ensembl
Innerchr1:153447113..153487867hg18UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsesv13606
SamplesNA19190, NA19129
Known GenesFAM189B, GBA, GBAP1, MTX1
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)esv28935
Frequency
Sample Size451
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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