A curated catalogue of human genomic structural variation




Variant Details

Variant: esv997488



Internal ID6733430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:179638222..179638890hg38UCSC Ensembl
Innerchr1:179607357..179608025hg19UCSC Ensembl
Innerchr1:177873980..177874648hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38669
hg19669
hg18669
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3586361
SamplesHuRef
Known GenesTDRD5
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv997488
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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