A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763650



Internal ID10376330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:116724215..117167971hg38UCSC Ensembl
Innerchr2:117481791..117925547hg19UCSC Ensembl
Innerchr2:117198261..117642017hg18UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg38443757
hg19443757
hg18443757
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7017578, essv7017589
SamplesSW_1270, SW_0590
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)esv2763650
Frequency
Sample Size1109
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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