A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13300796



Internal ID2222819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:117258961..117322763hg38UCSC Ensembl
chr8:118271200..118335002hg19UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg3863803
hg1963803
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618549
Supporting Variants
SamplesHG01997
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13300796
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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