A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762096



Internal ID10374894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:21778625..21828842hg38UCSC Ensembl
Innerchr21:23150945..23201162hg19UCSC Ensembl
Innerchr21:22072816..22123033hg18UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg3850218
hg1950218
hg1850218
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7004311
SamplesSW_0582
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)esv2762096
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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