A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6758734



Internal ID10164680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:23217865..23218746hg38UCSC Ensembl
Outerchr18:20797829..20798710hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38882
hg19882
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716855
Supporting Variants
SamplesSSM059
Known GenesCABLES1
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)essv6758734
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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