A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3548487



Internal ID18402877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:126567685..126568301hg38UCSC Ensembl
Outerchr11:126567677..126568329hg38UCSC Ensembl
Innerchr11:126437580..126438196hg19UCSC Ensembl
Outerchr11:126437572..126438224hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg38653
hg19653
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9747234
Samples
Known GenesKIRREL3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3548487
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