A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6960183



Internal ID10062506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:46386905..46393963hg19UCSC Ensembl
Cytoband16q11.2
Allele length
AssemblyAllele length
hg197059
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714347, esv2714345, esv2714349, esv2714343
Supporting Variants
SamplesSSM026
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)essv6960183
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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