A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3333467



Internal ID15180454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103645707..103657505hg38UCSC Ensembl
Innerchr1:103646707..103656505hg38UCSC Ensembl
Outerchr1:103644707..103658505hg38UCSC Ensembl
chr1:104188329..104200127hg19UCSC Ensembl
Innerchr1:104189329..104199127hg19UCSC Ensembl
Outerchr1:104187329..104201127hg19UCSC Ensembl
chr1:103989852..104001650hg18UCSC Ensembl
Innerchr1:103990852..104000650hg18UCSC Ensembl
Outerchr1:103988852..104002650hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3811799
hg1911799
hg1811799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8691712
SamplesNA19239
Known GenesAMY1A, AMY1B, AMY1C
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3333467
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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