A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724829



Internal ID3275325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:4619604..4619694hg38UCSC Ensembl
Outerchr3:4661288..4661378hg19UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg3891
hg1991
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6962384, essv6864600
SamplesSSM027, SSM089
Known GenesITPR1
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)esv2724829
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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