A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714889



Internal ID10298525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:86738536..86738730hg38UCSC Ensembl
Outerchr16:86772142..86772336hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg38195
hg19195
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv376e201
Supporting Variantsessv6960282, essv6674137, essv6852135, essv6943751, essv6768956
SamplesSSM064, SSM026, SSM003, SSM031, SSM086
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)esv2714889
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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