A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599292



Internal ID6986340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:196664768..196667851hg38UCSC Ensembl
chr3:196391639..196394722hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg383084
hg193084
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11308552, essv11308549, essv11308547, essv11308551, essv11308546, essv11308548, essv11308553, essv11308550
SamplesNA18530, HG01668, NA19404, NA18525, HG00533, HG03575, HG01705, NA20815
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599292
Frequency
Sample Size2504
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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