A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6966563



Internal ID9726424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:6837041..6837143hg38UCSC Ensembl
Outerchr16:6887042..6887144hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38103
hg19103
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750461, esv2750455, esv2750460
Supporting Variants
SamplesSSM027
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)essv6966563
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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