A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694356



Internal ID13634968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:190065103..190098214hg38UCSC Ensembl
Innerchr4:190069116..190097214hg38UCSC Ensembl
Outerchr4:190064103..190099214hg38UCSC Ensembl
chr4:190986258..191019369hg19UCSC Ensembl
Innerchr4:190990271..191018369hg19UCSC Ensembl
Outerchr4:190985258..191020369hg19UCSC Ensembl
chr4:191223252..191253350hg18UCSC Ensembl
Innerchr4:191224252..191252350hg18UCSC Ensembl
Outerchr4:191222252..191254350hg18UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg3833112
hg1933112
hg1830099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3353516
Supporting Variants
SamplesNA12878
Known GenesDUX2, DUX4, DUX4L2, DUX4L3, DUX4L4, DUX4L5, DUX4L6, DUX4L7, LOC100653046
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694356
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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