A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10344745



Internal ID553332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:239949966..240058047hg38UCSC Ensembl
chr1:240113266..240221347hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38108082
hg19108082
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589291
Supporting Variants
SamplesHG00240
Known GenesRPS7P5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10344745
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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