A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760726



Internal ID10028088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21960717..22219595hg38UCSC Ensembl
Innerchr22:22315089..22573987hg19UCSC Ensembl
Innerchr22:20645089..20903987hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38258879
hg19258899
hg18258899
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7026690, essv7026688
SamplesRW_0345, RW_0011
Known GenesTOP3B
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)esv2760726
Frequency
Sample Size1109
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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