A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3025n54



Internal ID18995201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132304118..132305527hg38UCSC Ensembl
chr12:132880704..132882113hg19UCSC Ensembl
chr12:131390777..131392186hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg381410
hg191410
hg181410
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv560991, nsv560986, nsv560987, nsv560994
Samples
Known GenesGALNT9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv3025n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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