A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7004528



Internal ID10025270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18888915..19019471hg38UCSC Ensembl
Innerchr22:18876428..19006984hg19UCSC Ensembl
Innerchr22:17256428..17386984hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38130557
hg19130557
hg18130557
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763706
Supporting Variants
SamplesSW_1425
Known GenesDGCR5, DGCR6, DGCR9, PRODH
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)essv7004528
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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