A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11111213



Internal ID2160442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:116169351..116183784hg38UCSC Ensembl
chr3:115888198..115902631hg19UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg3814434
hg1914434
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597488
Supporting Variants
SamplesHG01953
Known GenesLSAMP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11111213
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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