A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737016



Internal ID10320652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:55745571..55746570hg38UCSC Ensembl
Outerchr8:56658130..56659129hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg381000
hg191000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6818945, essv6838033, essv6964742, essv6975966, essv6861607, essv6958137, essv6890748, essv6760523, essv6908241, essv6684549
SamplesSSM083, SSM027, SSM097, SSM088, SSM061, SSM029, SSM026, SSM014, SSM078, SSM034
Known GenesTMEM68
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)esv2737016
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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