A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760700



Internal ID10028062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46554142..46634864hg38UCSC Ensembl
Innerchr21:47974055..48054776hg19UCSC Ensembl
Innerchr21:46798483..46879204hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3880723
hg1980722
hg1880722
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7026593, essv7026595, essv7026594
SamplesRW_0204, RW_0205, RW_0635
Known GenesDIP2A, S100B
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)esv2760700
Frequency
Sample Size1109
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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