A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762357



Internal ID10375155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:10261183..10286197hg38UCSC Ensembl
Innerchr2:10401309..10426323hg19UCSC Ensembl
Innerchr2:10318760..10343774hg18UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3825015
hg1925015
hg1825015
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7009621
SamplesSW_1094
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)esv2762357
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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