A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14438224



Internal ID4440040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32419473..32449857hg38UCSC Ensembl
chr12:32572407..32602791hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3830385
hg1930385
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629078
Supporting Variants
SamplesHG02464
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14438224
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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