A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6741699



Internal ID9804575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:8633923..8634652hg38UCSC Ensembl
Outerchr18:8633921..8634650hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg38730
hg19730
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716756
Supporting Variants
SamplesSSM052
Known GenesRAB12
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)essv6741699
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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