A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7023870



Internal ID10000962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:35569018..36048855hg38UCSC Ensembl
Innerchr16:34803389..35283226hg19UCSC Ensembl
Innerchr16:34660890..35140727hg18UCSC Ensembl
Cytoband16p11.1
Allele length
AssemblyAllele length
hg38479838
hg19479838
hg18479838
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760434
Supporting Variants
SamplesRW_0571
Known GenesFLJ26245
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)essv7023870
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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