A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6820577



Internal ID10220125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:26991713..26992119hg38UCSC Ensembl
Outerchr18:24571677..24572083hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38407
hg19407
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716888
Supporting Variants
SamplesSSM078
Known GenesCHST9
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)essv6820577
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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