A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3598966



Internal ID6639231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:185273685..185354155hg38UCSC Ensembl
chr3:184991473..185071943hg19UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg3880471
hg1980471
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11257597
SamplesHG00560
Known GenesMAP3K13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3598966
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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