A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744299



Internal ID9978583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:28031940..28034858hg38UCSC Ensembl
Outerchr11:28053487..28056405hg19UCSC Ensembl
Cytoband11p14.1
Allele length
AssemblyAllele length
hg382919
hg192919
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6887881
SamplesSSM096
Known GenesKIF18A
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2744299
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer