A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760645



Internal ID10376952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:4155597..4176429hg38UCSC Ensembl
Innerchr2:4203187..4224019hg19UCSC Ensembl
Innerchr2:4181062..4201894hg18UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg3820833
hg1920833
hg1820833
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv77e203
Supporting Variantsessv7007208, essv7007213, essv7007212, essv7007206, essv7007207, essv7007209, essv7007210
SamplesRW_0203, RW_0538, RW_0541, RW_0043, RW_0289, RW_0589, RW_0574
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)esv2760645
Frequency
Sample Size1109
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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