A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6792335



Internal ID9848079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:6068781..6960474hg38UCSC Ensembl
Outerchr16:6118782..7010475hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38891694
hg19891694
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750455
Supporting Variants
SamplesSSM070
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)essv6792335
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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