A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1001n100



Internal ID20152617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:133418490..133562190hg38UCSC Ensembl
chr10:135231994..135375694hg19UCSC Ensembl
chr10:135081984..135225684hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38143701
hg19143701
hg18143701
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1036579, nsv1047718, nsv1038175, nsv1050035, nsv1042449, nsv1044985, nsv1054162, nsv1046862, nsv1037728, nsv1048718, nsv1043795, nsv1047016, nsv1046277, nsv1039477, nsv1040936, nsv1039485, nsv1052821, nsv1053452, nsv1042246, nsv1048782, nsv1053126, nsv1042575, nsv1044649, nsv1036735, nsv1042709, nsv1046281, nsv1047839, nsv1040421, nsv1040621, nsv1052789
Samples
Known GenesCYP2E1, MTG1, SCART1, SPRN, SYCE1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1001n100
Frequency
Sample Size29084
Observed Gain110
Observed Loss0
Observed Complex0
Frequencyn/a


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