A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6882917



Internal ID10278108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:75165794..75166008hg38UCSC Ensembl
Outerchr18:72877749..72877963hg19UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg38215
hg19215
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717376, esv2717373
Supporting Variants
SamplesSSM094
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)essv6882917
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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