A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7001228



Internal ID10006123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:68768311..68777476hg38UCSC Ensembl
Innerchr16:68802214..68811379hg19UCSC Ensembl
Innerchr16:67359715..67368880hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg389166
hg199166
hg189166
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761911
Supporting Variants
SamplesSW_0063
Known GenesCDH1
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)essv7001228
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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