A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7030402



Internal ID10024711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:189884957..190106768hg38UCSC Ensembl
Innerchr4:190806112..191027923hg19UCSC Ensembl
Innerchr4:191043106..191261904hg18UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg38221812
hg19221812
hg18218799
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763429
Supporting Variants
SamplesSW_1404
Known GenesDUX2, DUX4, DUX4L2, DUX4L3, DUX4L4, DUX4L5, DUX4L6, DUX4L7, FRG1, FRG2, LOC100288255, LOC100653046, LOC283788
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)essv7030402
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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