A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715155



Internal ID9949441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:89399854..89400413hg38UCSC Ensembl
Outerchr16:89466262..89466821hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38560
hg19560
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6966785, essv6706751, essv6820374, essv6824240, essv6752988, essv6916712, essv6867910, essv6691299, essv6792498, essv6888493, essv6895195, essv6800892
SamplesSSM027, SSM040, SSM078, SSM089, SSM072, SSM016, SSM057, SSM005, SSM096, SSM079, SSM098, SSM070
Known GenesANKRD11
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)esv2715155
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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