A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11111214



Internal ID6642516
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
SamplesNA20799
Known GenesLSAMP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11111214
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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