A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717467



Internal ID9951758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:77669816..77671144hg38UCSC Ensembl
Outerchr18:75381772..75383100hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg381329
hg191329
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6780313, essv6816162, essv6832113, essv6792742, essv6916919, essv6753164, essv6804107
SamplesSSM073, SSM057, SSM067, SSM081, SSM016, SSM077, SSM070
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)esv2717467
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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