A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8301n54



Internal ID22776196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:45507536..45509980hg38UCSC Ensembl
chr3:45549028..45551472hg19UCSC Ensembl
chr3:45524032..45526476hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg382445
hg192445
hg182445
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv590175, nsv590167, nsv590172, nsv590171, nsv590164, nsv590163
Samples
Known GenesLARS2, LARS2-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8301n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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