A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14596816



Internal ID4598632
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630632
Supporting Variants
SamplesNA18645
Known GenesTXNRD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14596816
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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