A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11170142



Internal ID725043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:145243649..145386218hg38UCSC Ensembl
Innerchr3:145243649..145386218hg38UCSC Ensembl
Outerchr3:145243149..145386718hg38UCSC Ensembl
chr3:144961436..145104005hg19UCSC Ensembl
Innerchr3:144961436..145104005hg19UCSC Ensembl
Outerchr3:144960936..145104505hg19UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg38142570
hg19142570
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598059
Supporting Variants
SamplesHG00339
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11170142
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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