A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3310526



Internal ID14810791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:41835844..41835844hg38UCSC Ensembl
Outerchr21:41835844..41835844hg38UCSC Ensembl
Innerchr21:43255953..43255953hg19UCSC Ensembl
Outerchr21:43255953..43255953hg19UCSC Ensembl
Innerchr21:42129022..42129022hg18UCSC Ensembl
Outerchr21:42129022..42129022hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3860
hg1960
hg1860
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7843410
SamplesNA12878
Known GenesPRDM15
MethodSequencing
AnalysisCortex de-novo
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3310526
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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