A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715613



Internal ID10299249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:8343202..8344708hg38UCSC Ensembl
Outerchr17:8246520..8248026hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg381507
hg191507
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6885506, essv6949765, essv6758645, essv6682192, essv6763784, essv6800939, essv6665761, essv6743221, essv6858201, essv6768995, essv6820426, essv6831936, essv6741595, essv6901905, essv6898091, essv6668527, essv6758931, essv6738332, essv6780095, essv6971524, essv6843135, essv6913261, essv6924964, essv6803953, essv6811110, essv6753010
SamplesSSM059, SSM024, SSM064, SSM087, SSM009, SSM073, SSM050, SSM057, SSM028, SSM084, SSM018, SSM029, SSM062, SSM067, SSM001, SSM033, SSM081, SSM072, SSM007, SSM015, SSM078, SSM095, SSM099, SSM052, SSM030, SSM012
Known GenesODF4
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)esv2715613
Frequency
Sample Size96
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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