A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6843006



Internal ID10242188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:46386905..46388310hg19UCSC Ensembl
Cytoband16q11.2
Allele length
AssemblyAllele length
hg191406
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714344, esv2714347, esv2714345, esv2714349, esv2714348, esv2714343, esv2714346
Supporting Variants
SamplesSSM084
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)essv6843006
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