A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760709



Internal ID10377016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:46912155..46961221hg38UCSC Ensembl
Innerchr22:47308051..47357117hg19UCSC Ensembl
Innerchr22:45686715..45735781hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3849067
hg1949067
hg1849067
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7027036, essv7027034, essv7027031, essv7027029, essv7027032, essv7027030, essv7027035
SamplesRW_0348, RW_0629, RW_0246, RW_0505, RW_0235, RW_0045, RW_0079
Known GenesTBC1D22A
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)esv2760709
Frequency
Sample Size1109
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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