A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7004110



Internal ID10358374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:52281001..52342809hg38UCSC Ensembl
Innerchr20:50897540..50959348hg19UCSC Ensembl
Innerchr20:50330947..50392755hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3861809
hg1961809
hg1861809
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762083
Supporting Variants
SamplesSW_0648
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)essv7004110
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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