A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6821818



Internal ID10223119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:190520185..190522835hg38UCSC Ensembl
Outerchr3:190237974..190240624hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg38n/a
hg192651
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726382
Supporting Variants
SamplesSSM079
Known GenesIL1RAP
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)essv6821818
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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