A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8673779



Internal ID14723957
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 StatusS
Merged Variantsesv3361989
Supporting Variants
SamplesNA19239
Known GenesCOPA
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8673779
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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