A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597731



Internal ID6984869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:128990006..129023340hg38UCSC Ensembl
chr3:128708849..128742183hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3833335
hg1933335
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11143190
SamplesHG04211
Known GenesEFCC1, KIAA1257
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597731
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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