A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6745n54



Internal ID20140169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:28513131..28546414hg38UCSC Ensembl
chr2:28735998..28769281hg19UCSC Ensembl
chr2:28589502..28622785hg18UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg3833284
hg1933284
hg1833284
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv581246, nsv581245
SamplesHGDP00770, HGDP00863
Known GenesPLB1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6745n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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