A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13150573



Internal ID3152389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:27375902..27443884hg38UCSC Ensembl
chr8:27233419..27301401hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg3867983
hg1967983
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616721
Supporting Variants
SamplesHG01596
Known GenesMIR6842, PTK2B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13150573
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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