A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750460



Internal ID9984744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:6762297..6870086hg38UCSC Ensembl
Outerchr16:6812298..6920087hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38107790
hg19107790
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6768861, essv6920714, essv6966563, essv6776422, essv6806738, essv6696070, essv6913059, essv6696069, essv6741492
SamplesSSM027, SSM064, SSM017, SSM037, SSM052, SSM074, SSM015, SSM008
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)esv2750460
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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