A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7004298



Internal ID10362754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:18685360..18708616hg38UCSC Ensembl
Innerchr21:20057678..20080934hg19UCSC Ensembl
Innerchr21:18979549..19002805hg18UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg3823257
hg1923257
hg1823257
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763677
Supporting Variants
SamplesSW_1049
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)essv7004298
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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