A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3344512



Internal ID15191496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:190065103..190097714hg38UCSC Ensembl
Innerchr4:190069116..190096714hg38UCSC Ensembl
Outerchr4:190064103..190098714hg38UCSC Ensembl
chr4:190986258..191018869hg19UCSC Ensembl
Innerchr4:190990271..191017869hg19UCSC Ensembl
Outerchr4:190985258..191019869hg19UCSC Ensembl
chr4:191223252..191252850hg18UCSC Ensembl
Innerchr4:191224252..191251850hg18UCSC Ensembl
Outerchr4:191222252..191253850hg18UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg3832612
hg1932612
hg1829599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3176e59
Supporting Variantsessv8694355
SamplesNA12892
Known GenesDUX2, DUX4, DUX4L2, DUX4L3, DUX4L4, DUX4L5, DUX4L6, DUX4L7, LOC100653046
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3344512
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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