A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7004050



Internal ID10359589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:30185676..30263595hg38UCSC Ensembl
Innerchr20:29420352..29498271hg19UCSC Ensembl
Innerchr20:28034013..28111932hg18UCSC Ensembl
Cytoband20q11.1
Allele length
AssemblyAllele length
hg3877920
hg1977920
hg1877920
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763660
Supporting Variants
SamplesSW_0786
Known Genes
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)essv7004050
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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