A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10897489



Internal ID899305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:328751..540780hg38UCSC Ensembl
chr3:370434..582463hg19UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg38212030
hg19212030
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594901
Supporting Variants
SamplesHG00264
Known GenesCHL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10897489
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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