A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6869943



Internal ID9661910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:7504644..7504774hg38UCSC Ensembl
Outerchr16:7554646..7554776hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38131
hg19131
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2713924, esv2713923
Supporting Variants
SamplesSSM011
Known GenesRBFOX1
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)essv6869943
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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