A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717571



Internal ID9951862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:78660014..78660703hg38UCSC Ensembl
Outerchr18:76420014..76420703hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38690
hg19690
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6877312, essv6796930, essv6678679, essv6721522, essv6692313, essv6873154, essv6840575, essv6913483, essv6828550, essv6832122, essv6674531, essv6949990, essv6902082, essv6874292, essv6792753, essv6921120, essv6928652, essv6960722, essv6816172, essv6807002, essv6945935, essv6772945, essv6717675, essv6937108
SamplesSSM036, SSM071, SSM024, SSM011, SSM065, SSM074, SSM023, SSM092, SSM021, SSM026, SSM017, SSM019, SSM032, SSM031, SSM044, SSM081, SSM015, SSM080, SSM077, SSM010, SSM091, SSM070, 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)esv2717571
Frequency
Sample Size96
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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