A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717371



Internal ID10301007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:75165463..75165984hg38UCSC Ensembl
Outerchr18:72877418..72877939hg19UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg38522
hg19522
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6717657, essv6784447, essv6843322, essv6780298, essv6801126, essv6949969, essv6796908, essv6713750, essv6835673, essv6967158, essv6674496, essv6888657, essv6692295, essv6928634, essv6868158, essv6832106, essv6960689, essv6937080, essv6925154, essv6921102, essv6932772, essv6913464, essv6902065
SamplesSSM036, SSM071, SSM027, SSM024, SSM042, SSM084, SSM021, SSM018, SSM096, SSM026, SSM089, SSM017, SSM019, SSM031, SSM067, SSM068, SSM081, SSM072, SSM082, SSM020, SSM015, SSM043, SSM012
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)esv2717371
Frequency
Sample Size96
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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