A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6872230



Internal ID10268490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:187108881..187109180hg38UCSC Ensembl
Outerchr3:186826669..186826968hg19UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg38300
hg19300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726348
Supporting Variants
SamplesSSM091
Known Genes
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)essv6872230
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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