A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715101



Internal ID9949386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:89117762..89118098hg38UCSC Ensembl
Outerchr16:89184170..89184506hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38337
hg19337
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6788398, essv6703083, essv6867906
SamplesSSM089, SSM039, SSM069
Known GenesACSF3
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)esv2715101
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer