A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6741n54



Internal ID20140165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:25340583..25342670hg38UCSC Ensembl
chr2:25563452..25565539hg19UCSC Ensembl
chr2:25416956..25419043hg18UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg382088
hg192088
hg182088
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv581224, nsv581231, nsv581226, nsv581225, nsv581227, nsv581229, nsv581228
Samples
Known GenesDNMT3A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6741n54
Frequency
Sample Size17421
Observed Gain21
Observed Loss0
Observed Complex0
Frequencyn/a


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