A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3362783



Internal ID15209761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103694507..103706005hg38UCSC Ensembl
Innerchr1:103695507..103705005hg38UCSC Ensembl
Outerchr1:103693507..103707005hg38UCSC Ensembl
chr1:104237129..104248627hg19UCSC Ensembl
Innerchr1:104238129..104247627hg19UCSC Ensembl
Outerchr1:104236129..104249627hg19UCSC Ensembl
chr1:104038652..104050150hg18UCSC Ensembl
Innerchr1:104039652..104049150hg18UCSC Ensembl
Outerchr1:104037652..104051150hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3811499
hg1911499
hg1811499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8691717
SamplesNA19239
Known GenesAMY1A, AMY1B, AMY1C
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3362783
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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