A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9745602



Internal ID18719848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:218612610..218612881hg38UCSC Ensembl
Outerchr1:218612558..218612910hg38UCSC Ensembl
Innerchr1:218785952..218786223hg19UCSC Ensembl
Outerchr1:218785900..218786252hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38353
hg19353
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3546855
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9745602
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