A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6755953



Internal ID10162311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:33032255..33033734hg38UCSC Ensembl
Outerchr16:33043576..33045055hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg381480
hg191480
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714222, esv2714206, esv2714204
Supporting Variants
SamplesSSM058
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)essv6755953
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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