A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7023792



Internal ID10000616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:32419081..33024687hg38UCSC Ensembl
Innerchr16:32430402..33036008hg19UCSC Ensembl
Innerchr16:32337903..32943509hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38605607
hg19605607
hg18605607
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760413
Supporting Variants
SamplesRW_0559
Known GenesSLC6A10P, TP53TG3, TP53TG3B, TP53TG3C
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)essv7023792
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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