A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2335n54



Internal ID22770230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7848316..7973149hg38UCSC Ensembl
chr12:8000912..8125745hg19UCSC Ensembl
chr12:7892179..8017012hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38124834
hg19124834
hg18124834
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv557320, nsv557308, nsv557319, nsv557304, nsv557317, nsv557318, nsv557306, nsv557305, nsv557314, nsv557315
Samples
Known GenesSLC2A14, SLC2A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2335n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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