A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6740n54



Internal ID18998916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:25340219..25342670hg38UCSC Ensembl
chr2:25563088..25565539hg19UCSC Ensembl
chr2:25416592..25419043hg18UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg382452
hg192452
hg182452
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv581223, nsv581222, nsv581220
Samples
Known GenesDNMT3A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6740n54
Frequency
Sample Size17421
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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