A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6696067



Internal ID9761374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:6068781..6960459hg38UCSC Ensembl
Outerchr16:6118782..7010460hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38891679
hg19891679
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750455
Supporting Variants
SamplesSSM037
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)essv6696067
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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