A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308421



Internal ID14808684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:160291667..160291668hg38UCSC Ensembl
Innerchr1:160291651..160291684hg38UCSC Ensembl
Outerchr1:160291650..160291685hg38UCSC Ensembl
chr1:160261457..160261458hg19UCSC Ensembl
Innerchr1:160261441..160261474hg19UCSC Ensembl
Outerchr1:160261440..160261475hg19UCSC Ensembl
chr1:158528081..158528082hg18UCSC Ensembl
Innerchr1:158528098..158528065hg18UCSC Ensembl
Outerchr1:158528064..158528099hg18UCSC Ensembl
Cytoband1q23.2
Allele length
AssemblyAllele length
hg38208
hg19208
hg18208
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7842909, essv7841605
SamplesNA19239, NA19240
Known GenesCOPA
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308421
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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