A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7023609



Internal ID10004270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:15886652..15923646hg38UCSC Ensembl
Innerchr16:15980509..16017503hg19UCSC Ensembl
Innerchr16:15888010..15925004hg18UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg3836995
hg1936995
hg1836995
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760415
Supporting Variants
SamplesRW_0656
Known GenesFOPNL
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)essv7023609
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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