A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6696070



Internal ID9761371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:6858972..6859364hg38UCSC Ensembl
Outerchr16:6908973..6909365hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38393
hg19393
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750463, esv2750464, esv2750455, esv2750460
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)essv6696070
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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