A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv859n54



Internal ID20134283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:234607491..234610218hg38UCSC Ensembl
chr1:234743237..234745964hg19UCSC Ensembl
chr1:232809860..232812587hg18UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg382728
hg192728
hg182728
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv549376, nsv549377, nsv549378
Samples
Known GenesIRF2BP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv859n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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