A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694357



Internal ID13694104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:190065103..190098314hg38UCSC Ensembl
Innerchr4:190069116..190097314hg38UCSC Ensembl
Outerchr4:190064103..190099314hg38UCSC Ensembl
chr4:190986258..191019469hg19UCSC Ensembl
Innerchr4:190990271..191018469hg19UCSC Ensembl
Outerchr4:190985258..191020469hg19UCSC Ensembl
chr4:191223252..191253450hg18UCSC Ensembl
Innerchr4:191224252..191252450hg18UCSC Ensembl
Outerchr4:191222252..191254450hg18UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg3833212
hg1933212
hg1830199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3351014
Supporting Variants
SamplesNA12891
Known GenesDUX2, DUX4, DUX4L2, DUX4L3, DUX4L4, DUX4L5, DUX4L6, DUX4L7, LOC100653046
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694357
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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