A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716985



Internal ID10300621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:39323199..39324184hg38UCSC Ensembl
Outerchr18:36903163..36904148hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg38986
hg19986
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6744399, essv6967089, essv6882891, essv6666033, essv6668610, essv6852445, essv6960621, essv6753123, essv6758740, essv6868115, essv6674426, essv6895356, essv6863310, essv6858406, essv6738437
SamplesSSM059, SSM027, SSM087, SSM050, SSM088, SSM057, SSM029, SSM026, SSM089, SSM094, SSM031, SSM086, SSM007, SSM098, SSM030
Known GenesLINC00669
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)esv2716985
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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