A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597840



Internal ID6984978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:133233480..133244683hg38UCSC Ensembl
Innerchr3:133233480..133244683hg38UCSC Ensembl
Outerchr3:133233390..133244759hg38UCSC Ensembl
chr3:132952324..132963527hg19UCSC Ensembl
Innerchr3:132952324..132963527hg19UCSC Ensembl
Outerchr3:132952234..132963603hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg3811204
hg1911204
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11155117
SamplesNA19664
Known GenesTMEM108
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597840
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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