A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763147



Internal ID10375827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:86256879..86257234hg38UCSC Ensembl
Innerchr16:86290485..86290840hg19UCSC Ensembl
Innerchr16:84847986..84848341hg18UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg38356
hg19356
hg18356
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7024055
SamplesRW_0018
Known GenesLINC01081
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)esv2763147
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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