A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737948



Internal ID10321584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:143040711..143042287hg38UCSC Ensembl
Outerchr8:144122128..144123704hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg381577
hg191577
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6915674, essv6734841, essv6763047, essv6787184, essv6782977, essv6905163, essv6716236, essv6876265, essv6743646, essv6897254, essv6958305, essv6841929, essv6900238, essv6683865, essv6771539
SamplesSSM100, SSM065, SSM002, SSM092, SSM084, SSM069, SSM062, SSM026, SSM068, SSM016, SSM053, SSM005, SSM099, SSM043, SSM049
Known GenesC8orf31
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)esv2737948
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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