A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7023782



Internal ID9991655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:32197425..32632053hg38UCSC Ensembl
Innerchr16:32208746..32643374hg19UCSC Ensembl
Innerchr16:32116247..32550875hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38434629
hg19434629
hg18434629
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760413
Supporting Variants
SamplesRW_0178
Known GenesLOC390705, TP53TG3D
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)essv7023782
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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