A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3560186



Internal ID18414576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:134981930..134982373hg38UCSC Ensembl
Outerchr2:134981902..134982390hg38UCSC Ensembl
Innerchr2:135739500..135739943hg19UCSC Ensembl
Outerchr2:135739472..135739960hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg38489
hg19489
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9758933
Samples
Known GenesMAP3K19
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3560186
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