A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6851966



Internal ID9903564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:7229837..7229928hg38UCSC Ensembl
Outerchr16:7279838..7279929hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2713922, esv2750467, esv2750469, esv2713921, esv2750472
Supporting Variants
SamplesSSM086
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)essv6851966
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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