A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714567



Internal ID10298203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:59003953..59004086hg38UCSC Ensembl
Outerchr16:59037857..59037990hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg38134
hg19134
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6867866, essv6820326
SamplesSSM089, SSM078
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)esv2714567
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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