A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714644



Internal ID9948928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:66486467..66492239hg38UCSC Ensembl
Outerchr16:66520370..66526142hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg385773
hg195773
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6691088, essv6806802
SamplesSSM005, SSM074
Known GenesBEAN1
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)esv2714644
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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