A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724939



Internal ID10308575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:232287393..232287735hg38UCSC Ensembl
Outerchr1:232423139..232423481hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38343
hg19343
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6766689, essv6718336, essv6821366, essv6868866, essv6704017, essv6816817, essv6906293, essv6864185, essv6898767, essv6961845, essv6968132, essv6933499, essv6910239, essv6845565, essv6859416, essv6892490, essv6889176, essv6825177, essv6669253, essv6853512, essv6670710, essv6877805, essv6699798, essv6682993, essv6810478, essv6807537, essv6793501
SamplesSSM100, SSM071, SSM027, SSM075, SSM011, SSM064, SSM079, SSM087, SSM097, SSM039, SSM093, SSM088, SSM028, SSM090, SSM021, SSM089, SSM031, SSM044, SSM014, SSM040, SSM015, SSM078, SSM005, SSM080, SSM076, SSM034, SSM098
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)esv2724939
Frequency
Sample Size96
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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