A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714020



Internal ID9948304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:15775484..15775555hg38UCSC Ensembl
Outerchr16:15869341..15869412hg19UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6857973
SamplesSSM087
Known GenesMYH11
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)esv2714020
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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