A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2713923



Internal ID9948207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:7504345..7505030hg38UCSC Ensembl
Outerchr16:7554347..7555032hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38686
hg19686
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6831774, essv6869943, essv6750013, essv6755934
SamplesSSM056, SSM011, SSM058, SSM081
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)esv2713923
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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