A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692351



Internal ID15111488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:47591093..47592291hg38UCSC Ensembl
Innerchr1:47591291..47592093hg38UCSC Ensembl
Outerchr1:47590093..47593291hg38UCSC Ensembl
chr1:48056765..48057963hg19UCSC Ensembl
Innerchr1:48056963..48057765hg19UCSC Ensembl
Outerchr1:48055765..48058963hg19UCSC Ensembl
chr1:47829352..47830550hg18UCSC Ensembl
Innerchr1:47830352..47829550hg18UCSC Ensembl
Outerchr1:47828352..47831550hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3358731
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692351
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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