A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3176e59



Internal ID22764396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:190065103..190107914hg38UCSC Ensembl
chr4:190986258..191029069hg19UCSC Ensembl
chr4:191223252..191263050hg18UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg3842812
hg1942812
hg1839799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3353516, esv3428791, esv3351014, esv3344512, esv3451228
SamplesNA12891, NA19238, NA12878, NA12892, NA19240
Known GenesDUX2, DUX4, DUX4L2, DUX4L3, DUX4L4, DUX4L5, DUX4L6, DUX4L7, LOC100653046
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv3176e59
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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