A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647060



Internal ID6687116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:41349724..41420569hg38UCSC Ensembl
chr21:42721651..42792496hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3870846
hg1970846
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16323577
SamplesHG02314
Known GenesFAM3B, MX1, MX2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647060
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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