A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9763932



Internal ID18391492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:185476937..185499277hg38UCSC Ensembl
Outerchr4:185471847..185500852hg38UCSC Ensembl
Innerchr4:186398091..186420431hg19UCSC Ensembl
Outerchr4:186393001..186422006hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg3829006
hg1929006
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3565185
Supporting Variants
Samples
Known GenesPDLIM3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9763932
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