A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760426



Internal ID10027789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:79218610..79245768hg38UCSC Ensembl
Innerchr16:79252507..79279665hg19UCSC Ensembl
Innerchr16:77810008..77837166hg18UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3827159
hg1927159
hg1827159
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7024012, essv7024013, essv7024011
SamplesRW_0614, RW_0596, RW_0209
Known Genes
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)esv2760426
Frequency
Sample Size1109
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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