A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715180



Internal ID9949466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:89588115..89588385hg38UCSC Ensembl
Outerchr16:89654523..89654793hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38271
hg19271
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6713549, essv6916717, essv6763754, essv6688787
SamplesSSM042, SSM035, SSM016, SSM062
Known GenesCPNE7
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)esv2715180
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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