A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3543589



Internal ID18397979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:184845730..184851436hg38UCSC Ensembl
Outerchr1:184845529..184851720hg38UCSC Ensembl
Innerchr1:184814864..184820570hg19UCSC Ensembl
Outerchr1:184814663..184820854hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg386192
hg196192
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9742336
Samples
Known GenesFAM129A
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3543589
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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