A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750464



Internal ID9984748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:6858786..6859533hg38UCSC Ensembl
Outerchr16:6908787..6909534hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38748
hg19748
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6913059, essv6741492, essv6768861, essv6696070, essv6920714
SamplesSSM064, SSM017, SSM015, SSM037, SSM052
Known GenesRBFOX1
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)esv2750464
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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