A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630637



Internal ID7017453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:104349677..104359530hg38UCSC Ensembl
Innerchr12:104349677..104359530hg38UCSC Ensembl
Outerchr12:104349526..104359671hg38UCSC Ensembl
chr12:104743455..104753308hg19UCSC Ensembl
Innerchr12:104743455..104753308hg19UCSC Ensembl
Outerchr12:104743304..104753449hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg389854
hg199854
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv301e214
Supporting Variantsessv14596877
SamplesHG02792
Known GenesTXNRD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630637
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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