A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763072



Internal ID10030422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:70487432..70546530hg38UCSC Ensembl
Innerchr14:70954149..71013247hg19UCSC Ensembl
Innerchr14:70023902..70083000hg18UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg3859099
hg1959099
hg1859099
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7022232
SamplesRW_0049
Known GenesADAM20
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)esv2763072
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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