A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2337n54



Internal ID22770232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7888325..7973149hg38UCSC Ensembl
chr12:8040921..8125745hg19UCSC Ensembl
chr12:7932188..8017012hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3884825
hg1984825
hg1884825
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv557327, nsv557326
Samples
Known GenesSLC2A14, SLC2A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2337n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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