A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6940922



Internal ID10048766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:46402125..46403341hg38UCSC Ensembl
Outerchr16:46436037..46437253hg19UCSC Ensembl
Cytoband16q11.2
Allele length
AssemblyAllele length
hg381217
hg191217
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714419, esv2714393, esv2714399, esv2714421, esv2714405, esv2714402, esv2714391, esv2714384, esv2714397, esv2714404, esv2714412, esv2714410, esv2714381, esv2714408
Supporting Variants
SamplesSSM022
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)essv6940922
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