A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6710159



Internal ID10120720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:49493506..49493800hg38UCSC Ensembl
Outerchr18:47019876..47020170hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38295
hg19295
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717085, esv2717086
Supporting Variants
SamplesSSM041
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)essv6710159
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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