A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760411



Internal ID10376719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:107776206..107801319hg38UCSC Ensembl
Innerchr11:107646932..107672045hg19UCSC Ensembl
Innerchr11:107152142..107177255hg18UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg3825114
hg1925114
hg1825114
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv22e203
Supporting Variantsessv6996303, essv6996304, essv6996297, essv6996294, essv6996293, essv6996295, essv6996298, essv6996302, essv6996296
SamplesSW_0005, SW_1149, SW_1357, SW_0190, SW_1520, SW_0586, SW_0857, SW_1073, SW_0690
Known GenesSLC35F2
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)esv2760411
Frequency
Sample Size1109
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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