A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10931829



Internal ID6045914
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3595359
Supporting Variants
SamplesNA19445
Known GenesTPRXL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10931829
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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