A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737894



Internal ID10321530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:142483236..142483391hg38UCSC Ensembl
Outerchr8:143564597..143564752hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38156
hg19156
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6799641, essv6677274, essv6948515, essv6894172, essv6723961, essv6701862
SamplesSSM024, SSM045, SSM039, SSM032, SSM072, SSM098
Known GenesBAI1
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)esv2737894
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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