A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7027032



Internal ID10344653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:46913455..46958859hg38UCSC Ensembl
Innerchr22:47309351..47354755hg19UCSC Ensembl
Innerchr22:45688015..45733419hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3845405
hg1945405
hg1845405
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760709
Supporting Variants
SamplesRW_0348
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)essv7027032
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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