A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725204



Internal ID10308840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:42879781..42880050hg38UCSC Ensembl
Outerchr3:42921273..42921542hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg38270
hg19270
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6899047
SamplesSSM100
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)esv2725204
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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