A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630632



Internal ID6670767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:104216440..104227182hg38UCSC Ensembl
chr12:104610218..104620960hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3810743
hg1910743
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14596816
SamplesNA18645
Known GenesTXNRD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630632
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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