A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6874246



Internal ID10270303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:26991670..26992344hg38UCSC Ensembl
Outerchr18:24571634..24572308hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38675
hg19675
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716888
Supporting Variants
SamplesSSM091
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)essv6874246
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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