A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761935



Internal ID10029285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:87934636..87946454hg38UCSC Ensembl
Innerchr16:87968242..87980060hg19UCSC Ensembl
Innerchr16:86525743..86537561hg18UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg3811819
hg1911819
hg1811819
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7001492
SamplesSW_1031
Known GenesCA5A
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)esv2761935
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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