A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7026879



Internal ID10003801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25253254..25520419hg38UCSC Ensembl
Innerchr22:25649221..25916386hg19UCSC Ensembl
Innerchr22:23979221..24246386hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38267166
hg19267166
hg18267166
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760720
Supporting Variants
SamplesRW_0643
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)essv7026879
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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