A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6966562



Internal ID9726426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:6487521..6487967hg38UCSC Ensembl
Outerchr16:6537522..6537968hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38447
hg19447
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750457, esv2750455
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)essv6966562
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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