A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16320717



Internal ID2948840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:38745243..38785700hg38UCSC Ensembl
chr21:40117167..40157624hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg3840458
hg1940458
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647007
Supporting Variants
SamplesHG02604
Known GenesLINC00114
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16320717
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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