A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629884



Internal ID6670023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:70233284..70252849hg38UCSC Ensembl
chr12:70627064..70646629hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3819566
hg1919566
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14522124
SamplesHG00651
Known GenesCNOT2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629884
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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