A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7736382



Internal ID13093072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:83590641..83591561hg38UCSC Ensembl
Outerchr1:83590441..83591761hg38UCSC Ensembl
Innerchr1:84056324..84057244hg19UCSC Ensembl
Outerchr1:84056124..84057444hg19UCSC Ensembl
Innerchr1:83828912..83829832hg18UCSC Ensembl
Outerchr1:83828712..83830032hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg381321
hg191321
hg181321
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302865
Supporting Variants
SamplesNA10847
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7736382
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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