A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16347124



Internal ID6348940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:46592879..46650385hg38UCSC Ensembl
chr21:48012792..48070297hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3857507
hg1957506
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647173
Supporting Variants
SamplesNA18561
Known GenesPRMT2, S100B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16347124
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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