A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714545



Internal ID10298181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:58020273..58020604hg38UCSC Ensembl
Outerchr16:58054177..58054508hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg38332
hg19332
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6735534, essv6792439, essv6863064, essv6909434, essv6742620, essv6846385, essv6916665, essv6768930, essv6895169, essv6713504, essv6913170, essv6784180, essv6885454, essv6874079, essv6674089, essv6800841, essv6682103, essv6920793, essv6806795, essv6888452, essv6901829
SamplesSSM064, SSM074, SSM042, SSM088, SSM096, SSM017, SSM031, SSM014, SSM033, SSM085, SSM068, SSM072, SSM007, SSM015, SSM016, SSM091, SSM070, SSM095, SSM098, SSM049, SSM012
Known GenesUSB1
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)esv2714545
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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