A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629948



Internal ID7016769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:73290560..73311041hg38UCSC Ensembl
chr12:73684340..73704821hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3820482
hg1920482
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14533736
SamplesHG04093
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629948
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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