A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6940837



Internal ID9701964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:16840514..16846562hg38UCSC Ensembl
Outerchr16:16934371..16940419hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg386049
hg196049
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714031, esv2714015
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)essv6940837
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