A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716920



Internal ID10300556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:30143397..30152207hg38UCSC Ensembl
Outerchr18:27723362..27732172hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg388811
hg198811
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6898208, essv6913414
SamplesSSM015, SSM099
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)esv2716920
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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