A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6668450



Internal ID10083759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:3469193..3469897hg38UCSC Ensembl
Outerchr16:3519193..3519897hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38705
hg19705
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750404, esv2750402
Supporting Variants
SamplesSSM030
Known GenesNAA60
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)essv6668450
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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