A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6898208



Internal ID10290937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:30143488..30152181hg38UCSC Ensembl
Outerchr18:27723453..27732146hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg388694
hg198694
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716920
Supporting Variants
SamplesSSM099
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)essv6898208
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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