A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3603480



Internal ID6990511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:184972549..184986795hg38UCSC Ensembl
chr4:185893703..185907949hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg3814247
hg1914247
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11734393, essv11734392
SamplesHG01098, NA19756
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3603480
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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