A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7004005



Internal ID10354307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:4037813..4096413hg38UCSC Ensembl
Innerchr20:4018460..4077060hg19UCSC Ensembl
Innerchr20:3966460..4025060hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3858601
hg1958601
hg1858601
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763675
Supporting Variants
SamplesSW_0169
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)essv7004005
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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