A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7014722



Internal ID10369932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:65748620..65792645hg38UCSC Ensembl
Innerchr2:65975754..66019779hg19UCSC Ensembl
Innerchr2:65829258..65873283hg18UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg3844026
hg1944026
hg1844026
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762673
Supporting Variants
SamplesSW_1332
Known Genes
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)essv7014722
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