A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714445



Internal ID10298081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:49001772..49002615hg38UCSC Ensembl
Outerchr16:49035683..49036526hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38844
hg19844
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6960214, essv6867853, essv6674071, essv6758581, essv6755967, essv6763719, essv6820316, essv6738261, essv6766079, essv6665560, essv6966690, essv6852072, essv6863055, essv6909426, essv6858057, essv6735527
SamplesSSM059, SSM027, SSM087, SSM050, SSM088, SSM058, SSM029, SSM062, SSM026, SSM089, SSM031, SSM014, SSM086, SSM078, SSM049, SSM063
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)esv2714445
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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