A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11358841



Internal ID1957588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:12336945..12349861hg38UCSC Ensembl
chr4:12338569..12351485hg19UCSC Ensembl
Cytoband4p15.33
Allele length
AssemblyAllele length
hg3812917
hg1912917
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599681
Supporting Variants
SamplesHG01811
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11358841
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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