A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691728



Internal ID15064313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103753007..103755005hg38UCSC Ensembl
Innerchr1:103754005..103754007hg38UCSC Ensembl
Outerchr1:103752007..103756005hg38UCSC Ensembl
chr1:104295629..104297627hg19UCSC Ensembl
Innerchr1:104296627..104296629hg19UCSC Ensembl
Outerchr1:104294629..104298627hg19UCSC Ensembl
chr1:104097152..104099150hg18UCSC Ensembl
Innerchr1:104098152..104098150hg18UCSC Ensembl
Outerchr1:104096152..104100150hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg381999
hg191999
hg181999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3377623
Supporting Variants
SamplesNA19239
Known GenesAMY1A, AMY1B, AMY1C
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691728
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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