A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6882879



Internal ID10278073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:26991665..26992324hg38UCSC Ensembl
Outerchr18:24571629..24572288hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38660
hg19660
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716888
Supporting Variants
SamplesSSM094
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)essv6882879
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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