A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726417



Internal ID10310053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:193011242..193011385hg38UCSC Ensembl
Outerchr3:192729031..192729174hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38144
hg19144
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6849954, essv6821824
SamplesSSM011, SSM079
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)esv2726417
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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