A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7023114



Internal ID9986619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:32166460..32567657hg38UCSC Ensembl
Innerchr15:32458661..32859858hg19UCSC Ensembl
Innerchr15:30245953..30647150hg18UCSC Ensembl
Cytoband15q13.3
Allele length
AssemblyAllele length
hg38401198
hg19401198
hg18401198
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760365
Supporting Variants
SamplesRW_0045
Known GenesCHRNA7, GOLGA8K, 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)essv7023114
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