A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv386n54



Internal ID20133810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:102865793..102906096hg38UCSC Ensembl
chr1:103331349..103371652hg19UCSC Ensembl
chr1:103103937..103144240hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3840304
hg1940304
hg1840304
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv546929, nsv546928
Samples
Known GenesCOL11A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv386n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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