A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3333604



Internal ID15180591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:175458593..175459591hg38UCSC Ensembl
Innerchr1:175458592..175459592hg38UCSC Ensembl
Outerchr1:175457593..175460591hg38UCSC Ensembl
chr1:175427729..175428727hg19UCSC Ensembl
Innerchr1:175427728..175428728hg19UCSC Ensembl
Outerchr1:175426729..175429727hg19UCSC Ensembl
chr1:173694352..173695350hg18UCSC Ensembl
Innerchr1:173695351..173694351hg18UCSC Ensembl
Outerchr1:173693352..173696350hg18UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg38999
hg19999
hg18999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8692077
SamplesNA19239
Known GenesTNR
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3333604
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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