A curated catalogue of human genomic structural variation




Variant Details

Variant: esv25663



Internal ID93408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:149099862..149101623hg19UCSC Ensembl
Innerchr4:149319312..149321073hg18UCSC Ensembl
Cytoband4q31.23
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsesv21049
SamplesNA11931
Known GenesNR3C2
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)esv25663
Frequency
Sample Size451
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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