A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762892



Internal ID10030242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:4520595..4598006hg38UCSC Ensembl
Innerchr11:4541825..4619236hg19UCSC Ensembl
Innerchr11:4498401..4575812hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3877412
hg1977412
hg1877412
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7019071
SamplesRW_0091
Known GenesC11orf40, OR52I1, OR52I2, OR52M1
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)esv2762892
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