A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736935



Internal ID10320571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:42327789..42328201hg38UCSC Ensembl
Outerchr8:42185307..42185719hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg38413
hg19413
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6677176, essv6740521, essv6760518, essv6684536, essv6935404, essv6873241, essv6805907, essv6720072, essv6818928, essv6712439, essv6841843, essv6927388, essv6787093, essv6731496, essv6799540, essv6681002, essv6944188
SamplesSSM074, SSM042, SSM023, SSM084, SSM021, SSM047, SSM069, SSM061, SSM019, SSM032, SSM044, SSM033, SSM072, SSM078, SSM091, SSM034, SSM052
Known GenesIKBKB
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)esv2736935
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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