A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv387n54



Internal ID20133811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:102876836..102989661hg38UCSC Ensembl
chr1:103342392..103455217hg19UCSC Ensembl
chr1:103114980..103227805hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38112826
hg19112826
hg18112826
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv546930, nsv546933
Samples
Known GenesCOL11A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv387n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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