A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6920714



Internal ID9684233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:6858962..6859533hg38UCSC Ensembl
Outerchr16:6908963..6909534hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38572
hg19572
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750463, esv2750464, esv2750455, esv2750460
Supporting Variants
SamplesSSM017
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)essv6920714
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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