A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11112303



Internal ID3150933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:116661505..116675280hg38UCSC Ensembl
Innerchr3:116661505..116675280hg38UCSC Ensembl
Outerchr3:116661484..116675461hg38UCSC Ensembl
chr3:116380352..116394127hg19UCSC Ensembl
Innerchr3:116380352..116394127hg19UCSC Ensembl
Outerchr3:116380331..116394308hg19UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg3813776
hg1913776
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597497
Supporting Variants
SamplesHG02774
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11112303
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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