A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6706751



Internal ID9772871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:89400057..89400346hg38UCSC Ensembl
Outerchr16:89466465..89466754hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38290
hg19290
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715156, esv2715155
Supporting Variants
SamplesSSM040
Known GenesANKRD11
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)essv6706751
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