A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731087



Internal ID10314723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:170916131..170916297hg38UCSC Ensembl
Outerchr5:170343135..170343301hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38167
hg19167
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6855034, essv6848910, essv6818038, essv6826252, essv6687140, essv6860657, essv6907394, essv6886909, essv6683889, essv6865425, essv6890083, essv6670935, essv6974546, essv6956777
SamplesSSM087, SSM097, SSM088, SSM029, SSM096, SSM026, SSM089, SSM035, SSM031, SSM014, SSM086, SSM078, SSM080, SSM034
Known GenesRANBP17
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)esv2731087
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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