A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7008991



Internal ID9999155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:46760327..46807689hg38UCSC Ensembl
Innerchr3:46801817..46849179hg19UCSC Ensembl
Innerchr3:46776821..46824183hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3847363
hg1947363
hg1847363
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760773
Supporting Variants
SamplesRW_0522
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)essv7008991
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