A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763374



Internal ID10030724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:86229932..86263179hg38UCSC Ensembl
Innerchr4:87151085..87184332hg19UCSC Ensembl
Innerchr4:87370109..87403356hg18UCSC Ensembl
Cytoband4q21.3
Allele length
AssemblyAllele length
hg3833248
hg1933248
hg1833248
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7029737
SamplesSW_1446
Known GenesMAPK10
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)esv2763374
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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