A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16323577



Internal ID6325393
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647060
Supporting Variants
SamplesHG02314
Known GenesFAM3B, MX1, MX2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16323577
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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