A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6927467



Internal ID9690118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:144278880..144279353hg38UCSC Ensembl
Outerchr8:145502913..145503386hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38474
hg19474
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2738057
Supporting Variants
SamplesSSM019
Known GenesBOP1
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)essv6927467
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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