A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9759803



Internal ID18734049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:222932665..222932950hg38UCSC Ensembl
Outerchr2:222932593..222933019hg38UCSC Ensembl
Innerchr2:223797383..223797668hg19UCSC Ensembl
Outerchr2:223797311..223797737hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg38427
hg19427
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3561056
Supporting Variants
Samples
Known GenesACSL3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9759803
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