A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6899144



Internal ID9946098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:189645584..189653098hg38UCSC Ensembl
Outerchr3:189363373..189370887hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg387515
hg197515
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726367
Supporting Variants
SamplesSSM100
Known GenesTP63
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)essv6899144
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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