A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6999913



Internal ID10010560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:32239115..32567657hg38UCSC Ensembl
Innerchr15:32531316..32859858hg19UCSC Ensembl
Innerchr15:30318608..30647150hg18UCSC Ensembl
Cytoband15q13.3
Allele length
AssemblyAllele length
hg38328543
hg19328543
hg18328543
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761877
Supporting Variants
SamplesSW_0592
Known GenesGOLGA8K, GOLGA8O, LOC100996255, ULK4P1, ULK4P2, ULK4P3, WHAMMP1
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)essv6999913
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