A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14520123



Internal ID3446900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:68322361..68325923hg38UCSC Ensembl
chr12:68716141..68719703hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg383563
hg193563
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629846
Supporting Variants
SamplesHG03077
Known GenesMDM1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14520123
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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