A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7026746



Internal ID10000114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:23581570..23637032hg38UCSC Ensembl
Innerchr22:23923757..23979219hg19UCSC Ensembl
Innerchr22:22253757..22309219hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3855463
hg1955463
hg1855463
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760716
Supporting Variants
SamplesRW_0545
Known GenesC22orf43
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)essv7026746
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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