A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6905687



Internal ID9670108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:77555044..77556211hg38UCSC Ensembl
Outerchr18:75267000..75268167hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg381168
hg191168
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717464, esv2717388
Supporting Variants
SamplesSSM013
Known Genes
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)essv6905687
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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