A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7000507



Internal ID10008088
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 StatusS
Merged Variantsesv2762077
Supporting Variants
SamplesSW_0189
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)essv7000507
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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