A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv279n54



Internal ID20133703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:54627522..54629333hg38UCSC Ensembl
chr1:55093195..55095006hg19UCSC Ensembl
chr1:54865783..54867594hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg381812
hg191812
hg181812
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv546286, nsv546283, nsv546284, nsv546277, nsv546276, nsv546288, nsv546275, nsv546278
Samples
Known GenesACOT11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv279n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss229
Observed Complex0
Frequencyn/a


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