A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16277448



Internal ID2597743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:19537881..19693712hg38UCSC Ensembl
chr21:20910196..21066026hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg38155832
hg19155831
Variant TypeCNV gain
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646526
Supporting Variants
SamplesHG02304
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16277448
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