A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9760051



Internal ID18387611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:42277519..42277814hg38UCSC Ensembl
Outerchr1:42277462..42277871hg38UCSC Ensembl
Innerchr1:42743190..42743485hg19UCSC Ensembl
Outerchr1:42743133..42743542hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38410
hg19410
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3561304
Supporting Variants
Samples
Known GenesFOXJ3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9760051
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