A curated catalogue of human genomic structural variation




Variant Details

Variant: esv29959



Internal ID11047482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:121569278..121619614hg38UCSC Ensembl
Innerchr9:124331557..124381893hg19UCSC Ensembl
Innerchr9:123371378..123421714hg18UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg3850337
hg1950337
hg1850337
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv84198
SamplesWATSON
Known GenesDAB2IP, MIR548AA1, MIR548D1
MethodOligo aCGH
AnalysisThe data were analyzed using the CGH Analytics software.
PlatformAgilent-014584 Human Genome 244K CGH Microarray (Alpha Test)
Comments
ReferenceWheeler_et_al_2008
Pubmed ID18421352
Accession Number(s)esv29959
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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