A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643488



Internal ID6683561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:4137148..4158957hg38UCSC Ensembl
chr19:4137145..4158954hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3821810
hg1921810
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15980353, essv15980354
SamplesHG02266, HG01992
Known GenesCREB3L3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643488
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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