A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1008n100



Internal ID22787095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:133573736..133769367hg38UCSC Ensembl
chr10:135387240..135506692hg19UCSC Ensembl
chr10:135237230..135356682hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38195632
hg19119453
hg18119453
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1046819, nsv1048457, nsv1038768
Samples
Known GenesDUX2, DUX4, DUX4L, DUX4L2, DUX4L3, DUX4L5, DUX4L6, DUX4L7, FRG2B, LOC100653046
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1008n100
Frequency
Sample Size11257
Observed Gain8
Observed Loss14
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer