A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3595422



Internal ID6982740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:17596730..17608517hg38UCSC Ensembl
Innerchr3:17596730..17608517hg38UCSC Ensembl
Outerchr3:17596594..17608642hg38UCSC Ensembl
chr3:17638222..17650009hg19UCSC Ensembl
Innerchr3:17638222..17650009hg19UCSC Ensembl
Outerchr3:17638086..17650134hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg3811788
hg1911788
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10939735
SamplesNA19908
Known GenesTBC1D5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3595422
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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