A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7004853



Internal ID10016222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:49042669..49685786hg38UCSC Ensembl
Innerchr22:49438481..50079434hg19UCSC Ensembl
Innerchr22:47824485..48465438hg18UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg38643118
hg19640954
hg18640954
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763692
Supporting Variants
SamplesSW_1055
Known GenesC22orf34
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)essv7004853
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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