A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6816166



Internal ID9871344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:78372491..78373180hg38UCSC Ensembl
Outerchr18:76132491..76133180hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38690
hg19690
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717510, esv2717497, esv2717512, esv2717514
Supporting Variants
SamplesSSM077
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)essv6816166
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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