A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724936



Internal ID9959238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:12859998..12861862hg38UCSC Ensembl
Outerchr3:12901497..12903361hg19UCSC Ensembl
Cytoband3p25.2
Allele length
AssemblyAllele length
hg381865
hg191865
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6739284, essv6914419, essv6788877, essv6973344, essv6766914, essv6880794
SamplesSSM064, SSM009, SSM029, SSM094, SSM016, SSM052
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)esv2724936
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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