A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608946



Internal ID6649179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:49462181..49480414hg38UCSC Ensembl
chr6:49429894..49448127hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg3818234
hg1918234
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12344720, essv12344713, essv12344716, essv12344727, essv12344723, essv12344721, essv12344725, essv12344728, essv12344712, essv12344718, essv12344726, essv12344717, essv12344719, essv12344714, essv12344722, essv12344715, essv12344724
SamplesHG01485, HG01303, NA20863, HG00330, HG01063, HG03917, HG03830, NA21109, HG00154, NA12760, NA19707, HG01102, NA12716, HG00237, HG00378, HG01756, HG01061
Known GenesCENPQ, MUT
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608946
Frequency
Sample Size2504
Observed Gain17
Observed Loss0
Observed Complex0
Frequencyn/a


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