A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6936666



Internal ID9695404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:12943050..12943739hg38UCSC Ensembl
Outerchr16:13036907..13037596hg19UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg38690
hg19690
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2713990
Supporting Variants
SamplesSSM021
Known GenesSHISA9
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)essv6936666
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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