A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9762966



Internal ID18390526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:88912214..88912266hg38UCSC Ensembl
chr4:89833365..89833417hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3564219
Supporting Variants
Samples
Known GenesFAM13A
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9762966
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