A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14539504



Internal ID6342217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:76120145..76249711hg38UCSC Ensembl
chr12:76513925..76643491hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38129567
hg19129567
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630024
Supporting Variants
SamplesNA20127
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14539504
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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