A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762239



Internal ID10375037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:3780301..3783025hg38UCSC Ensembl
Innerchr2:3827891..3830615hg19UCSC Ensembl
Innerchr2:3805766..3808490hg18UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg382725
hg192725
hg182725
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7007202
SamplesRW_0171
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)esv2762239
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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