A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763760



Internal ID10377796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:40376210..40406057hg38UCSC Ensembl
Innerchr3:40417701..40447548hg19UCSC Ensembl
Innerchr3:40392705..40422552hg18UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg3829848
hg1929848
hg1829848
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7027082, essv7027083
SamplesSW_1358, SW_0271
Known GenesENTPD3, ENTPD3-AS1
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)esv2763760
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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