A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13322353



Internal ID3324169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:127738039..127746724hg38UCSC Ensembl
chr8:128750285..128758970hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg388686
hg198686
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618781
Supporting Variants
SamplesNA20508
Known GenesMYC
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13322353
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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