A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3595359



Internal ID6982677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:14040767..14062284hg38UCSC Ensembl
Innerchr3:14040776..14062276hg38UCSC Ensembl
Outerchr3:14040759..14062293hg38UCSC Ensembl
chr3:14082267..14103784hg19UCSC Ensembl
Innerchr3:14082276..14103776hg19UCSC Ensembl
Outerchr3:14082259..14103793hg19UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg3821518
hg1921518
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10931829, essv10931830
SamplesNA19445, NA19454
Known GenesTPRXL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3595359
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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