A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2249n54



Internal ID20135673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:511971..513156hg38UCSC Ensembl
chr12:621137..622322hg19UCSC Ensembl
chr12:491398..492583hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg381186
hg191186
hg181186
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv556883, nsv556884
Samples
Known GenesB4GALNT3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2249n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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