A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717394



Internal ID9951684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:76423265..76424013hg38UCSC Ensembl
Outerchr18:74135221..74135969hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38749
hg19749
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6801130, essv6868162, essv6682367, essv6913465, essv6738469, essv6858483, essv6747417, essv6674500, essv6874281, essv6937086, essv6945863, essv6665267, essv6852519, essv6772927, essv6696458
SamplesSSM065, SSM087, SSM050, SSM021, SSM089, SSM003, SSM031, SSM086, SSM033, SSM072, SSM015, SSM037, SSM091, SSM055, SSM004
Known GenesZNF516
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)esv2717394
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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