A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717356



Internal ID10300992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:75066541..75068291hg38UCSC Ensembl
Outerchr18:72778497..72780247hg19UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg381751
hg191751
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6744586, essv6741757, essv6766232, essv6770264, essv6858476, essv6828530, essv6717656, essv6678663, essv6758768, essv6820647, essv6769140, essv6666106, essv6971711, essv6843318, essv6960687, essv6843319, essv6858477, essv6674494, essv6772918, essv6928633, essv6902064, essv6666105, essv6913708
SamplesSSM059, SSM064, SSM065, SSM087, SSM002, SSM028, SSM084, SSM029, SSM026, SSM019, SSM032, SSM031, SSM001, SSM078, SSM053, SSM080, SSM043, SSM052, SSM063, 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)esv2717356
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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