A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11112416



Internal ID935296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:116949747..116965891hg38UCSC Ensembl
Innerchr3:116949798..116965841hg38UCSC Ensembl
Outerchr3:116949697..116965942hg38UCSC Ensembl
chr3:116668594..116684738hg19UCSC Ensembl
Innerchr3:116668645..116684688hg19UCSC Ensembl
Outerchr3:116668544..116684789hg19UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg3816145
hg1916145
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597502
Supporting Variants
SamplesHG00557
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11112416
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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