A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618424



Internal ID7005306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:111216461..111322847hg38UCSC Ensembl
chr8:112228690..112335076hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg38106387
hg19106387
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13286458, essv13286457
SamplesHG03485, HG00476
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618424
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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