A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6901758



Internal ID9665303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:3066798..3067242hg38UCSC Ensembl
Outerchr16:3116799..3117243hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38445
hg19445
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750390, esv2750394, esv2750395
Supporting Variants
SamplesSSM012
Known GenesIL32
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)essv6901758
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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