A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630027



Internal ID7016847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:76248358..76285908hg38UCSC Ensembl
chr12:76642138..76679688hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg3837551
hg1937551
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14539508
SamplesHG01200
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630027
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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