A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762785



Internal ID10375583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:113287135..113324207hg38UCSC Ensembl
Innerchr2:114044712..114081784hg19UCSC Ensembl
Innerchr2:113761182..113798254hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3837073
hg1937073
hg1837073
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7017489
SamplesSW_0701
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)esv2762785
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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