A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717468



Internal ID9951759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:77690272..77690480hg38UCSC Ensembl
Outerchr18:75402228..75402436hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38209
hg19209
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6971722, essv6960708
SamplesSSM028, SSM026
Known Genes
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)esv2717468
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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