A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10928622



Internal ID930438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:12587906..12609352hg38UCSC Ensembl
chr3:12629405..12650851hg19UCSC Ensembl
Cytoband3p25.2
Allele length
AssemblyAllele length
hg3821447
hg1921447
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3595327
Supporting Variants
SamplesHG01392
Known GenesRAF1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10928622
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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