A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6716149



Internal ID10128016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:30746579..30748102hg38UCSC Ensembl
Outerchr8:30604096..30605619hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg381524
hg191524
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736833
Supporting Variants
SamplesSSM043
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)essv6716149
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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