A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6943273



Internal ID9989101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:46409424..46413670hg19UCSC Ensembl
Cytoband16q11.2
Allele length
AssemblyAllele length
hg194247
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714377, esv2714379, esv2714360, esv2714381
Supporting Variants
SamplesSSM003
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)essv6943273
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