A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760437



Internal ID10376745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:61917577..61936402hg38UCSC Ensembl
Innerchr16:61951481..61970306hg19UCSC Ensembl
Innerchr16:60508982..60527807hg18UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg3818826
hg1918826
hg1818826
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7023915, essv7023916, essv7023913, essv7023914
SamplesRW_0099, RW_0328, RW_0156, RW_0167
Known GenesCDH8
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)esv2760437
Frequency
Sample Size1109
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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