A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3349637



Internal ID15196619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103685607..103690105hg38UCSC Ensembl
Innerchr1:103686607..103689105hg38UCSC Ensembl
Outerchr1:103684607..103691105hg38UCSC Ensembl
chr1:104228229..104232727hg19UCSC Ensembl
Innerchr1:104229229..104231727hg19UCSC Ensembl
Outerchr1:104227229..104233727hg19UCSC Ensembl
chr1:104029752..104034250hg18UCSC Ensembl
Innerchr1:104030752..104033250hg18UCSC Ensembl
Outerchr1:104028752..104035250hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg384499
hg194499
hg184499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8691715
SamplesNA19239
Known GenesAMY1A, AMY1B, AMY1C
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3349637
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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