A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762344



Internal ID10029694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:27326291..27342533hg38UCSC Ensembl
Innerchr16:27337612..27353854hg19UCSC Ensembl
Innerchr16:27245113..27261355hg18UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg3816243
hg1916243
hg1816243
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7000750, essv7000754, essv7000751, essv7000749, essv7000752, essv7000753
SamplesSW_0619, SW_1468, SW_1209, SW_0860, SW_0673, SW_0271
Known GenesIL4R
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)esv2762344
Frequency
Sample Size1109
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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