A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717446



Internal ID9951737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:77343237..77343452hg38UCSC Ensembl
Outerchr18:75055193..75055408hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38216
hg19216
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6753162, essv6871337
SamplesSSM057, SSM090
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)esv2717446
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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