A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8545n54



Internal ID20141969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:126091128..126251891hg38UCSC Ensembl
chr3:125809971..125970734hg19UCSC Ensembl
chr3:127292661..127453424hg18UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg38160764
hg19160764
hg18160764
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv591493, nsv591494
Samples
Known GenesALDH1L1, ALDH1L1-AS1, ALDH1L1-AS2, SLC41A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8545n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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