A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7007732



Internal ID10334879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:83764462..83798217hg38UCSC Ensembl
Innerchr2:83991586..84025341hg19UCSC Ensembl
Innerchr2:83845097..83878852hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg3833756
hg1933756
hg1833756
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760657
Supporting Variants
SamplesRW_0090
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)essv7007732
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer