A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7023907



Internal ID9990783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:55795645..55837223hg38UCSC Ensembl
Innerchr16:55829557..55871135hg19UCSC Ensembl
Innerchr16:54387058..54428636hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3841579
hg1941579
hg1841579
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760436
Supporting Variants
SamplesRW_0155
Known GenesCES1
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)essv7023907
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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