A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714346



Internal ID10297982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:46386904..46388750hg19UCSC Ensembl
Cytoband16q11.2
Allele length
AssemblyAllele length
hg191847
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv353e201
Supporting Variantsessv6936719, essv6788292, essv6843009, essv6916603, essv6772605, essv6835369, essv6913122, essv6843006, essv6858038, essv6839146, essv6682048, essv6966638, essv6784124, essv6839147
SamplesSSM083, SSM027, SSM065, SSM087, SSM084, SSM021, SSM069, SSM033, SSM068, SSM082, SSM015, SSM016
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)esv2714346
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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