A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6779132



Internal ID9653134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:37441654..37442282hg38UCSC Ensembl
Outerchr18:35021617..35022245hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg38629
hg19629
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716969
Supporting Variants
SamplesSSM008
Known GenesCELF4
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)essv6779132
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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