A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6846540



Internal ID10245368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:24323338..24324619hg38UCSC Ensembl
Outerchr18:21903302..21904583hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg381282
hg191282
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716867
Supporting Variants
SamplesSSM085
Known GenesOSBPL1A
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)essv6846540
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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