A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7022466



Internal ID10021412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:208372862..208382659hg38UCSC Ensembl
Innerchr2:209237587..209247384hg19UCSC Ensembl
Innerchr2:208945832..208955629hg18UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg389798
hg199798
hg189798
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763084
Supporting Variants
SamplesSW_1252
Known GenesPTH2R
MethodMerging
AnalysisTwo different algorithms (PennCNV and Birdseye) were applied to detect CNVs. Only congruent CNV events regarding direction of effect that were detected by both algorithms were merged using the outer borders of the event in a first step. In a second step only CNVs that were detected in at least two individuals were merged into a CNVR.
PlatformMerging
Comments
ReferenceVogler_et_al_2010
Pubmed ID21179565
Accession Number(s)essv7022466
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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