A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597561



Internal ID6637829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:119505783..119509002hg38UCSC Ensembl
chr3:119224630..119227849hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg383220
hg193220
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11116298, essv11116299
SamplesHG03919, HG03376
Known GenesTIMMDC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597561
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