A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7004191



Internal ID10005583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:54148790..54160086hg38UCSC Ensembl
Innerchr20:52765329..52776625hg19UCSC Ensembl
Innerchr20:52198736..52210032hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3811297
hg1911297
hg1811297
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762085
Supporting Variants
SamplesSW_0043
Known GenesCYP24A1
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)essv7004191
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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