A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7004039



Internal ID10358581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:23101399..23112063hg38UCSC Ensembl
Innerchr20:23082036..23092700hg19UCSC Ensembl
Innerchr20:23030036..23040700hg18UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg3810665
hg1910665
hg1810665
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762066
Supporting Variants
SamplesSW_0661
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)essv7004039
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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