A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6725339



Internal ID9789600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:78504275..78504416hg38UCSC Ensembl
Outerchr18:76264275..76264416hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38142
hg19142
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717497, esv2717543, esv2717544
Supporting Variants
SamplesSSM045
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)essv6725339
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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