A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594873



Internal ID6635148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:36658..319672hg38UCSC Ensembl
chr3:78332..361355hg19UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg38283015
hg19283024
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10896237
SamplesHG01768
Known GenesCHL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594873
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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