A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760434



Internal ID10027797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:34962980..36048855hg38UCSC Ensembl
Innerchr16:34197351..35283226hg19UCSC Ensembl
Innerchr16:34054852..35140727hg18UCSC Ensembl
Cytoband16p11.1
Allele length
AssemblyAllele length
hg381085876
hg191085876
hg181085876
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv51e203
Supporting Variantsessv7023869, essv7023870
SamplesRW_0571, RW_0599
Known GenesFLJ26245, LOC100130700, LOC146481, LOC283914, UBE2MP1
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)esv2760434
Frequency
Sample Size1109
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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