A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3361989



Internal ID15208967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:160291673..160291681hg38UCSC Ensembl
Innerchr1:160291665..160291689hg38UCSC Ensembl
Outerchr1:160291657..160291695hg38UCSC Ensembl
chr1:160261463..160261471hg19UCSC Ensembl
Innerchr1:160261455..160261479hg19UCSC Ensembl
Outerchr1:160261447..160261485hg19UCSC Ensembl
chr1:158528087..158528095hg18UCSC Ensembl
Innerchr1:158528103..158528079hg18UCSC Ensembl
Outerchr1:158528071..158528109hg18UCSC Ensembl
Cytoband1q23.2
Allele length
AssemblyAllele length
hg38284
hg19284
hg18284
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8673778, essv8673779
SamplesNA19239, NA19240
Known GenesCOPA
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3361989
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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