A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6743n54



Internal ID18998919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:25673149..25674072hg38UCSC Ensembl
chr2:25896018..25896941hg19UCSC Ensembl
chr2:25749522..25750445hg18UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38924
hg19924
hg18924
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv581238, nsv581240
Samples
Known GenesDTNB
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6743n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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