A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760713



Internal ID10377020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:36079634..36105210hg38UCSC Ensembl
Innerchr22:36475682..36501258hg19UCSC Ensembl
Innerchr22:34805628..34831204hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3825577
hg1925577
hg1825577
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7026927, essv7026926
SamplesRW_0272, RW_0666
Known Genes
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)esv2760713
Frequency
Sample Size1109
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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