A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716721



Internal ID10300357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:5957883..5958342hg38UCSC Ensembl
Outerchr18:5957882..5958341hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38460
hg19460
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6960576, essv6971642, essv6682302, essv6703255, essv6967043, essv6665980
SamplesSSM027, SSM039, SSM028, SSM029, SSM026, SSM033
Known GenesL3MBTL4
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)esv2716721
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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