A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763149



Internal ID10030499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:89179547..89368114hg38UCSC Ensembl
Innerchr16:89245955..89434522hg19UCSC Ensembl
Innerchr16:87773456..87962023hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38188568
hg19188568
hg18188568
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7024057
SamplesRW_0613
Known GenesANKRD11, CDH15, LOC100287036, SLC22A31, ZNF778
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)esv2763149
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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