A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762077



Internal ID10029427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:6466904..6481960hg38UCSC Ensembl
Innerchr16:6516905..6531961hg19UCSC Ensembl
Innerchr16:6456906..6471962hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3815057
hg1915057
hg1815057
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7000508, essv7000507
SamplesSW_0189, SW_0199
Known GenesRBFOX1
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)esv2762077
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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