A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7026880



Internal ID9992396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25253254..25522742hg38UCSC Ensembl
Innerchr22:25649221..25918709hg19UCSC Ensembl
Innerchr22:23979221..24248709hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38269489
hg19269489
hg18269489
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760720
Supporting Variants
SamplesRW_0192
Known GenesCRYBB2P1, IGLL3P, LRP5L, MIR6817
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)essv7026880
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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