A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7026642



Internal ID10004712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18190118..19019471hg38UCSC Ensembl
Innerchr22:18672885..19006984hg19UCSC Ensembl
Innerchr22:17052885..17386984hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38829354
hg19334100
hg18334100
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760714
Supporting Variants
SamplesRW_0669
Known GenesDGCR5, DGCR6, DGCR9, GGT3P, 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)essv7026642
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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