A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11125370



Internal ID6534681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:123750237..123881255hg38UCSC Ensembl
chr3:123469084..123600102hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg38131019
hg19131019
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597631
Supporting Variants
SamplesNA20585
Known GenesMYLK
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11125370
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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