A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2713934



Internal ID9948218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:8563996..8564388hg38UCSC Ensembl
Outerchr16:8613998..8614390hg19UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38393
hg19393
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6839096, essv6673941, essv6867760, essv6916550
SamplesSSM089, SSM031, SSM016, SSM083
Known Genes
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)esv2713934
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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