A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv35e55



Internal ID20126514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:133370615..133621047hg38UCSC Ensembl
chr10:135184119..135434551hg19UCSC Ensembl
chr10:135034109..135284541hg18UCSC Ensembl
chr10:135073000..135323432hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38250433
hg19250433
hg18250433
hg17250433
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2750855, esv2750860, esv2750867, esv2750870, esv34689, esv2750874, esv2750871, esv2750873, esv2750868, esv2750869, esv2750872, esv2750859, esv2750866, esv34643, esv2750861, esv34512, esv2750863, esv2750856, esv2750862, esv2750864, esv2750857, esv2750858, esv2750854, esv2750865
SamplesBEC_721, BEC_428, BEC_589, BEC_552, SPC_93, BEC_656, BEC_740, BEC_635, SPC_129, BEC_806, BEC_774, SPC_71, NA18515, BEC_303, BEC_581, BEC_32, NA18516, BEC_765, NA12234, BEC_414, BEC_415, BEC_352, BEC_529, BEC_608
Known GenesCYP2E1, ECHS1, MIR3944, MTG1, PAOX, SCART1, SPRN, SPRNP1, SYCE1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)dgv35e55
Frequency
Sample Size771
Observed Gain101
Observed Loss0
Observed Complex0
Frequencyn/a


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