A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7019120



Internal ID9989938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:4946420..4957152hg38UCSC Ensembl
Innerchr11:4967650..4978382hg19UCSC Ensembl
Innerchr11:4924226..4934958hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3810733
hg1910733
hg1810733
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760169
Supporting Variants
SamplesRW_0132
Known GenesOR51A2, OR51A4
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)essv7019120
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