A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7004131



Internal ID10010103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:54031269..54042112hg38UCSC Ensembl
Innerchr20:52647808..52658651hg19UCSC Ensembl
Innerchr20:52081215..52092058hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3810844
hg1910844
hg1810844
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763673
Supporting Variants
SamplesSW_0575
Known GenesBCAS1
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)essv7004131
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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