A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717491



Internal ID9951782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:77978598..77978807hg38UCSC Ensembl
Outerchr18:75690554..75690763hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38210
hg19210
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv471e201
Supporting Variantsessv6949982, essv6858497, essv6703355
SamplesSSM024, SSM087, SSM039
Known GenesLINC01029
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)esv2717491
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer