A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613850



Internal ID6654058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:80290404..80387766hg38UCSC Ensembl
chr7:79919720..80017082hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg3897363
hg1997363
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12860973
SamplesHG01861
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613850
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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