A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2248n54



Internal ID20135672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:511600..513202hg38UCSC Ensembl
chr12:620766..622368hg19UCSC Ensembl
chr12:491027..492629hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg381603
hg191603
hg181603
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv556880, nsv556879, nsv556882
Samples
Known GenesB4GALNT3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2248n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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