A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8740948



Internal ID15085362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:207935475..207935475hg38UCSC Ensembl
Innerchr1:207935474..207935476hg38UCSC Ensembl
Outerchr1:207935425..207935525hg38UCSC Ensembl
chr1:208108820..208108820hg19UCSC Ensembl
Innerchr1:208108819..208108821hg19UCSC Ensembl
Outerchr1:208108770..208108870hg19UCSC Ensembl
chr1:206175443..206175443hg18UCSC Ensembl
Innerchr1:206175444..206175442hg18UCSC Ensembl
Outerchr1:206175393..206175493hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg381598
hg191598
hg181598
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3329461
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8740948
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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