A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3595345



Internal ID6982663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:12999058..13007686hg38UCSC Ensembl
chr3:13040558..13049186hg19UCSC Ensembl
Cytoband3p25.2
Allele length
AssemblyAllele length
hg388629
hg198629
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10931031, essv10931030, essv10931032
SamplesHG01779, NA20589, NA20821
Known GenesIQSEC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3595345
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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