A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716756



Internal ID9951045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:8633642..8634666hg38UCSC Ensembl
Outerchr18:8633640..8634664hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg381025
hg191025
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6741699, essv6735653, essv6715621, essv6937011, essv6820557, essv6750200, essv6738417, essv6766376, essv6967047, essv6674385, essv6858370, essv6668597, essv6778944, essv6682306, essv6763860, essv6744536, essv6758724, essv6665987, essv6863274
SamplesSSM059, SSM008, SSM027, SSM087, SSM050, SSM088, SSM021, SSM029, SSM062, SSM031, SSM001, SSM033, SSM006, SSM078, SSM053, SSM052, SSM049, SSM056, SSM030
Known GenesRAB12
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)esv2716756
Frequency
Sample Size96
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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