A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2333n54



Internal ID22770228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7847740..7919412hg38UCSC Ensembl
chr12:8000336..8072008hg19UCSC Ensembl
chr12:7891603..7963275hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3871673
hg1971673
hg1871673
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv557290, nsv557313
Samples
Known GenesSLC2A14, SLC2A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2333n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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