A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763117



Internal ID10375797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:239573420..239692891hg38UCSC Ensembl
Innerchr2:240495114..240614585hg19UCSC Ensembl
Innerchr2:240160051..240279522hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38119472
hg19119472
hg18119472
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7023510
SamplesSW_0816
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)esv2763117
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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