A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762097



Internal ID10374895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:21846523..21912828hg38UCSC Ensembl
Innerchr21:23218843..23285148hg19UCSC Ensembl
Innerchr21:22140714..22207019hg18UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg3866306
hg1966306
hg1866306
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7004313
SamplesSW_1400
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)esv2762097
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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