A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2713994



Internal ID9948278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:13198212..13198537hg38UCSC Ensembl
Outerchr16:13292069..13292394hg19UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg38326
hg19326
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6874025, essv6877050, essv6831779
SamplesSSM092, SSM091, SSM081
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)esv2713994
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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