A curated catalogue of human genomic structural variation




Variant Details

Variant: esv25342



Internal ID94243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:102573178..102574378hg19UCSC Ensembl
Innerchr14:101642931..101644131hg18UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsesv10140
SamplesNA18861
Known GenesHSP90AA1
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)esv25342
Frequency
Sample Size451
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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