A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7732953



Internal ID14098971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:38118175..38118176hg38UCSC Ensembl
Outerchr1:38117997..38118354hg38UCSC Ensembl
Innerchr1:38583847..38583848hg19UCSC Ensembl
Outerchr1:38583669..38584026hg19UCSC Ensembl
Innerchr1:38356435..38356434hg18UCSC Ensembl
Outerchr1:38356256..38356613hg18UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38358
hg19358
hg18358
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302766
Supporting Variants
SamplesNA18563
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7732953
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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