A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3603470



Internal ID6990501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:184794187..184800729hg38UCSC Ensembl
chr4:185715341..185721883hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg386543
hg196543
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11734099, essv11734100
SamplesHG01098, HG02278
Known GenesACSL1, SLED1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3603470
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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