A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6921108



Internal ID9684588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:77372718..77373163hg38UCSC Ensembl
Outerchr18:75084674..75085119hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38446
hg19446
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717447, esv2717388
Supporting Variants
SamplesSSM017
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)essv6921108
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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