A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16347121



Internal ID6348937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:46586178..46674643hg38UCSC Ensembl
Innerchr21:46586328..46674493hg38UCSC Ensembl
Outerchr21:46586028..46674793hg38UCSC Ensembl
chr21:48006091..48094555hg19UCSC Ensembl
Innerchr21:48006241..48094405hg19UCSC Ensembl
Outerchr21:48005941..48094705hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3888466
hg1988465
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647171
Supporting Variants
SamplesNA18561
Known GenesPRMT2, S100B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16347121
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer