A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599016



Internal ID6986064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:187863192..187895689hg38UCSC Ensembl
chr3:187580980..187613477hg19UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg3832498
hg1932498
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11261370, essv11261365, essv11261361, essv11261360, essv11261367, essv11261363, essv11261366, essv11261362, essv11261364, essv11261368, essv11261369
SamplesHG00592, HG00589, NA18618, HG03746, NA18539, HG02057, HG00404, HG01954, HG01863, NA19063, HG03439
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599016
Frequency
Sample Size2504
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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