A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617003



Internal ID7003889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:42084510..42090608hg38UCSC Ensembl
chr8:41942028..41948126hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg386099
hg196099
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13182352, essv13182351
SamplesHG01501, NA20881
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617003
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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