A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694358



Internal ID15011981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:190065103..190107914hg38UCSC Ensembl
Innerchr4:190069116..190106914hg38UCSC Ensembl
Outerchr4:190064103..190107927hg38UCSC Ensembl
chr4:190986258..191029069hg19UCSC Ensembl
Innerchr4:190990271..191028069hg19UCSC Ensembl
Outerchr4:190985258..191029082hg19UCSC Ensembl
chr4:191223252..191263050hg18UCSC Ensembl
Innerchr4:191224252..191262050hg18UCSC Ensembl
Outerchr4:191222252..191264050hg18UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg3842812
hg1942812
hg1839799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3428791
Supporting Variants
SamplesNA19238
Known GenesDUX2, DUX4, DUX4L2, DUX4L3, DUX4L4, DUX4L5, DUX4L6, DUX4L7, LOC100653046
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694358
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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