A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7000591



Internal ID10006721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:18595075..18688534hg38UCSC Ensembl
Innerchr16:18606397..18699856hg19UCSC Ensembl
Innerchr16:18513898..18607357hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg3893460
hg1993460
hg1893460
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762176
Supporting Variants
SamplesSW_0102
Known GenesABCC6P1
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)essv7000591
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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