A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7023897



Internal ID9999941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:55795645..55814156hg38UCSC Ensembl
Innerchr16:55829557..55848068hg19UCSC Ensembl
Innerchr16:54387058..54405569hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3818512
hg1918512
hg1818512
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760436
Supporting Variants
SamplesRW_0540
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)essv7023897
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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