A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6674012



Internal ID10089549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:46400749..46400807hg38UCSC Ensembl
Outerchr16:46395099..46395157hg19UCSC Ensembl
Cytoband16q11.2
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714369, esv2714350, esv2714365, esv2714357, esv2714364, esv2714366, esv2714367, esv2714360, esv2714359, esv2714368, esv2714361
Supporting Variants
SamplesSSM031
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)essv6674012
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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