A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3019n54



Internal ID18995195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132181784..132203592hg38UCSC Ensembl
chr12:132666329..132688137hg19UCSC Ensembl
chr12:131232282..131254090hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3821809
hg1921809
hg1821809
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv560964, nsv560965
Samples
Known GenesGALNT9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv3019n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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