A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717460



Internal ID9951751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:77548901..77549675hg38UCSC Ensembl
Outerchr18:75260857..75261631hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38775
hg19775
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6725333, essv6954148, essv6967171, essv6682374, essv6824461, essv6828539, essv6674512, essv6812832, essv6688946
SamplesSSM027, SSM045, SSM079, SSM009, SSM035, SSM031, SSM033, SSM080, SSM025
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)esv2717460
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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