A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2247n54



Internal ID20135671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:511600..512669hg38UCSC Ensembl
chr12:620766..621835hg19UCSC Ensembl
chr12:491027..492096hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg381070
hg191070
hg181070
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv556881, nsv556878
Samples
Known GenesB4GALNT3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2247n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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