A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717194



Internal ID10300830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:62580496..62581883hg38UCSC Ensembl
Outerchr18:60247729..60249116hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg381388
hg191388
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6941236, essv6945897, essv6824438, essv6928623, essv6732973, essv6843309, essv6725309, essv6717647, essv6717646, essv6692286, essv6913450, essv6916901, essv6692721, essv6895375, essv6756158, essv6852484, essv6932760, essv6828514, essv6682357, essv6872842
SamplesSSM036, SSM045, SSM011, SSM079, SSM023, SSM058, SSM084, SSM047, SSM019, SSM086, SSM033, SSM020, SSM015, SSM016, SSM005, SSM080, SSM022, SSM043, SSM098
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)esv2717194
Frequency
Sample Size96
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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