A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv301e214



Internal ID18980476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:104349677..104360209hg38UCSC Ensembl
chr12:104743455..104753987hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3810533
hg1910533
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3630637, esv3630638
SamplesHG02792
Known GenesTXNRD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv301e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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