A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14630032



Internal ID4631848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:128793327..128853915hg38UCSC Ensembl
chr12:129277872..129338460hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg3860589
hg1960589
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631151
Supporting Variants
SamplesHG01894
Known GenesGLT1D1, SLC15A4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14630032
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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