A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6927812



Internal ID9690429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:48914217..48914709hg38UCSC Ensembl
Outerchr11:48935769..48936261hg19UCSC Ensembl
Cytoband11p11.12
Allele length
AssemblyAllele length
hg38493
hg19493
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744485, esv2744490
Supporting Variants
SamplesSSM019
Known Genes
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)essv6927812
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