A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715105



Internal ID3265601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:89122052..89122117hg38UCSC Ensembl
Outerchr16:89188460..89188525hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6867907
SamplesSSM089
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)esv2715105
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