A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762088



Internal ID10029438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:61220267..61799347hg38UCSC Ensembl
Innerchr16:61254171..61833251hg19UCSC Ensembl
Innerchr16:59811672..60390752hg18UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg38579081
hg19579081
hg18579081
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7001227, essv7001226
SamplesSW_0142, SW_1405
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)esv2762088
Frequency
Sample Size1109
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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