A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2576n54



Internal ID22770471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:40409038..40431685hg38UCSC Ensembl
chr12:40802840..40825487hg19UCSC Ensembl
chr12:39089107..39111754hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3822648
hg1922648
hg1822648
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv558602, nsv558600, nsv558601
SamplesHGDP00045
Known GenesMUC19
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2576n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer