A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589011



Internal ID6629302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:226224912..226234594hg38UCSC Ensembl
chr1:226412613..226422295hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg389683
hg199683
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10309267, essv10309268, essv10309269
SamplesHG01811, NA18625, NA18985
Known GenesLIN9, MIXL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589011
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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