A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760714



Internal ID10028076
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+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv99e203
Supporting Variantsessv7026647, essv7026648, essv7026642, essv7026644, essv7026643, essv7026646
SamplesRW_0604, RW_0243, RW_0555, RW_0289, RW_0669, RW_0186
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)esv2760714
Frequency
Sample Size1109
Observed Gain2
Observed Loss4
Observed Complex0
Frequencyn/a


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