A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14401362



Internal ID6457304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:19315053..19431350hg38UCSC Ensembl
chr12:19467987..19584284hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38116298
hg19116298
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628756
Supporting Variants
SamplesNA20515
Known GenesPLEKHA5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14401362
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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