A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6966284



Internal ID9990562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:30746497..30748194hg38UCSC Ensembl
Outerchr8:30604014..30605711hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg381698
hg191698
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736833
Supporting Variants
SamplesSSM004
Known GenesUBXN8
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)essv6966284
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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