A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717594



Internal ID9951885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:78838833..78840282hg38UCSC Ensembl
Outerchr18:76598833..76600282hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg381450
hg191450
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6916927, essv6780324, essv6824478
SamplesSSM079, SSM067, SSM016
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)esv2717594
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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