A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748841



Internal ID10329811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:58980931..58981480hg38UCSC Ensembl
Outerchr1:59446603..59447152hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg38550
hg19550
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6669009, essv6804042, essv6859234, essv6821223, essv6836225, essv6797493, essv6844166, essv6816626, essv6756582, essv6874735, essv6780922, essv6883284
SamplesSSM059, SSM083, SSM011, SSM079, SSM088, SSM002, SSM092, SSM031, SSM068, SSM072, SSM078, SSM095
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)esv2748841
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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