A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7004842



Internal ID10373086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:42514763..42561815hg38UCSC Ensembl
Innerchr22:42910769..42957821hg19UCSC Ensembl
Innerchr22:41240713..41287765hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3847053
hg1947053
hg1847053
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763695
Supporting Variants
SamplesSW_1471
Known GenesRRP7A, SERHL2
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)essv7004842
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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