A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733152



Internal ID10316788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:165708537..165709394hg38UCSC Ensembl
Outerchr6:166122025..166122882hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38858
hg19858
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6849341, essv6790638, essv6963944, essv6818404, essv6841384, essv6869881, essv6762730, essv6765112, essv6975021, essv6743285, essv6861027, essv6671333, essv6875848
SamplesSSM027, SSM088, SSM092, SSM084, SSM090, SSM029, SSM062, SSM031, SSM086, SSM078, SSM053, SSM070, SSM063
Known Genes
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)esv2733152
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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