A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714421



Internal ID10298057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:46402119..46403262hg38UCSC Ensembl
Outerchr16:46436031..46437174hg19UCSC Ensembl
Cytoband16q11.2
Allele length
AssemblyAllele length
hg381144
hg191144
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6688737, essv6966681, essv6871151, essv6784167, essv6721242, essv6674052, essv6867842, essv6863048, essv6809785, essv6690977, essv6916646, essv6806783, essv6812606, essv6742431, essv6732694, essv6692067, essv6909412, essv6828261, essv6750045, essv6932454, essv6796607, essv6735525, essv6728839, essv6870854, essv6706688, essv6843018, essv6971404, essv6882713, essv6940922
SamplesSSM036, SSM071, SSM027, SSM075, SSM046, SSM011, SSM074, SSM088, SSM028, SSM084, SSM090, SSM047, SSM089, SSM035, SSM094, SSM031, SSM044, SSM014, SSM068, SSM040, SSM020, SSM007, SSM016, SSM005, SSM080, SSM076, SSM022, SSM049, SSM056
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)esv2714421
Frequency
Sample Size96
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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