A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762113



Internal ID10029463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:42199305..42211517hg38UCSC Ensembl
Innerchr21:43619415..43631627hg19UCSC Ensembl
Innerchr21:42492484..42504696hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3812213
hg1912213
hg1812213
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7004406
SamplesSW_1111
Known GenesABCG1
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)esv2762113
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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