A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762222



Internal ID10029572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:219229085..219251368hg38UCSC Ensembl
Innerchr1:219402427..219424710hg19UCSC Ensembl
Innerchr1:217469050..217491333hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3822284
hg1922284
hg1822284
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7006984
SamplesRW_0210
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)esv2762222
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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