A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691726



Internal ID13388445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103747807..103754105hg38UCSC Ensembl
Innerchr1:103748807..103753105hg38UCSC Ensembl
Outerchr1:103746807..103755105hg38UCSC Ensembl
chr1:104290429..104296727hg19UCSC Ensembl
Innerchr1:104291429..104295727hg19UCSC Ensembl
Outerchr1:104289429..104297727hg19UCSC Ensembl
chr1:104091952..104098250hg18UCSC Ensembl
Innerchr1:104092952..104097250hg18UCSC Ensembl
Outerchr1:104090952..104099250hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg386299
hg196299
hg186299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3325833
Supporting Variants
SamplesNA12892
Known GenesAMY1A, AMY1B, AMY1C
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691726
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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