A curated catalogue of human genomic structural variation




Variant Details

Variant: esv26290



Internal ID110926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:71952267..71953590hg19UCSC Ensembl
Innerchr11:71629915..71631238hg18UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsesv14046
SamplesNA07037
Known GenesPHOX2A
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)esv26290
Frequency
Sample Size451
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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