A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7001248



Internal ID10024959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:70117624..70220756hg38UCSC Ensembl
Innerchr16:70151527..70254659hg19UCSC Ensembl
Innerchr16:68709028..68812160hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38103133
hg19103133
hg18103133
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762188
Supporting Variants
SamplesSW_1413
Known GenesCLEC18C, LOC100506060, PDPR
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)essv7001248
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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