A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714344



Internal ID10297980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:46386889..46388750hg19UCSC Ensembl
Cytoband16q11.2
Allele length
AssemblyAllele length
hg191862
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv353e201
Supporting Variantsessv6728808, essv6936719, essv6788292, essv6843009, essv6916603, essv6953807, essv6772605, essv6800780, essv6835369, essv6665534, essv6913122, essv6843006, essv6858038, essv6839146, essv6682048, essv6713463, essv6966638, essv6699107, essv6784124, essv6713477, essv6839147
SamplesSSM083, SSM027, SSM046, SSM065, SSM087, SSM038, SSM042, SSM084, SSM021, SSM069, SSM029, SSM033, SSM068, SSM072, SSM082, SSM015, SSM016, SSM025
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)esv2714344
Frequency
Sample Size96
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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