A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762148



Internal ID10029498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:66196616..66225622hg38UCSC Ensembl
Innerchr1:66662299..66691305hg19UCSC Ensembl
Innerchr1:66434887..66463893hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3829007
hg1929007
hg1829007
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7005406
SamplesRW_0217
Known GenesPDE4B
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)esv2762148
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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