A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7004533



Internal ID10009021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21188326..21257060hg38UCSC Ensembl
Innerchr22:21542615..21611349hg19UCSC Ensembl
Innerchr22:19872615..19941349hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3868735
hg1968735
hg1868735
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763699
Supporting Variants
SamplesSW_0269
Known GenesFAM230B
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)essv7004533
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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