A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1007n100



Internal ID20152623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:133531836..133769367hg38UCSC Ensembl
chr10:135345340..135506692hg19UCSC Ensembl
chr10:135195330..135356682hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38237532
hg19161353
hg18161353
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1053668, nsv1054187, nsv1044247, nsv1035500, nsv1043038, nsv1037699, nsv1052005, nsv1049007, nsv1051305, nsv1040866, nsv1038029, nsv1046778, nsv1046465, nsv1055020, nsv1040315, nsv1053876, nsv1035215, nsv1051975, nsv1052449
Samples
Known GenesCYP2E1, DUX2, DUX4, DUX4L, DUX4L2, DUX4L3, DUX4L5, DUX4L6, DUX4L7, FRG2B, LOC100653046, SPRNP1, SYCE1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1007n100
Frequency
Sample Size29084
Observed Gain128
Observed Loss0
Observed Complex0
Frequencyn/a


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