A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630626



Internal ID7017442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:104164370..104184999hg38UCSC Ensembl
chr12:104558148..104578777hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3820630
hg1920630
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14596808
SamplesNA18645
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630626
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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