A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1495n54



Internal ID18993671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:133481130..133588696hg38UCSC Ensembl
chr10:135294634..135402200hg19UCSC Ensembl
chr10:135144624..135252190hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38107567
hg19107567
hg18107567
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv552711, nsv552719, nsv552707, nsv552708, nsv552720, nsv552712, nsv552714, nsv552717, nsv552710, nsv552709, nsv552718, nsv552716, nsv552715
SamplesHGDP00546, 1780854158_A
Known GenesCYP2E1, SPRNP1, SYCE1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv1495n54
Frequency
Sample Size17421
Observed Gain17
Observed Loss0
Observed Complex0
Frequencyn/a


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