A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717304



Internal ID9951593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:69875904..69889715hg38UCSC Ensembl
Outerchr18:67543140..67556951hg19UCSC Ensembl
Cytoband18q22.2
Allele length
AssemblyAllele length
hg3813812
hg1913812
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6732982, essv6682363
SamplesSSM047, SSM033
Known GenesCD226
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)esv2717304
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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