A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717454



Internal ID9951745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:77373401..77373658hg38UCSC Ensembl
Outerchr18:75085357..75085614hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38258
hg19258
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6858494, essv6882922
SamplesSSM087, SSM094
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)esv2717454
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer