A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11459729



Internal ID4048249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:62942314..63022583hg38UCSC Ensembl
chr4:63808032..63888301hg19UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg3880270
hg1980270
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600720
Supporting Variants
SamplesHG03692
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11459729
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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