A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11227271



Internal ID5914122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:172029295..172031374hg38UCSC Ensembl
Innerchr3:172029320..172031350hg38UCSC Ensembl
Outerchr3:172029271..172031399hg38UCSC Ensembl
chr3:171747085..171749164hg19UCSC Ensembl
Innerchr3:171747110..171749140hg19UCSC Ensembl
Outerchr3:171747061..171749189hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg382080
hg192080
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598657
Supporting Variants
SamplesNA19324
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11227271
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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