A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737783



Internal ID9972122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:141436928..141437250hg38UCSC Ensembl
Outerchr8:142447028..142447350hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38323
hg19323
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6866447, essv6720162, essv6677272, essv6866448, essv6687856, essv6743640, essv6707932, essv6723951, essv6782960, essv6964874, essv6856333, essv6787170, essv6827138, essv6838099, essv6884733, essv6890814, essv6705715
SamplesSSM083, SSM027, SSM045, SSM087, SSM097, SSM069, SSM089, SSM035, SSM032, SSM044, SSM006, SSM068, SSM040, SSM053, SSM080, SSM095
Known GenesMROH5
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)esv2737783
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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