A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1496n54



Internal ID18993672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:133532689..133620799hg38UCSC Ensembl
chr10:135346193..135434303hg19UCSC Ensembl
chr10:135196183..135284293hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg3888111
hg1988111
hg1888111
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv552730, nsv552723, nsv552728
SamplesHGDP00475, HGDP01261, HGDP01088, HGDP00479
Known GenesCYP2E1, SPRNP1, SYCE1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv1496n54
Frequency
Sample Size17421
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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