A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3595081



Internal ID6635356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:4074541..4121014hg38UCSC Ensembl
Innerchr3:4075041..4120514hg38UCSC Ensembl
Outerchr3:4073541..4122014hg38UCSC Ensembl
chr3:4116225..4162698hg19UCSC Ensembl
Innerchr3:4116725..4162198hg19UCSC Ensembl
Outerchr3:4115225..4163698hg19UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg3846474
hg1946474
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10903550, essv10903549, essv10903547, essv10903546, essv10903557, essv10903552, essv10903553, essv10903559, essv10903556, essv10903554, essv10903558, essv10903545, essv10903544, essv10903551, essv10903560, essv10903548, essv10903555
SamplesHG01985, HG00766, NA18877, HG02600, HG03199, HG01046, NA19385, HG02427, NA19327, NA20903, HG04054, HG02256, NA19019, HG03433, HG00728, NA20502, HG03890
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3595081
Frequency
Sample Size2504
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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