A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763142



Internal ID10030492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:76237762..76427944hg38UCSC Ensembl
Innerchr16:76271660..76461841hg19UCSC Ensembl
Innerchr16:74829161..75019342hg18UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg38190183
hg19190182
hg18190182
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7023946
SamplesRW_0612
Known GenesCNTNAP4
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)esv2763142
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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