A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv151e59



Internal ID22761371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103755207..103761205hg38UCSC Ensembl
chr1:104297829..104303827hg19UCSC Ensembl
chr1:104099352..104105350hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg385999
hg195999
hg185999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3356736, esv3368815
SamplesNA19239, NA12892
Known GenesAMY1A, AMY1B, AMY1C
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv151e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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