A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11251119



Internal ID1252935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:181001654..181009931hg38UCSC Ensembl
chr3:180719442..180727719hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg388278
hg198278
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598881
Supporting Variants
SamplesHG03752
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11251119
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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