A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599693



Internal ID6986738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:12933473..12950490hg38UCSC Ensembl
chr4:12935097..12952114hg19UCSC Ensembl
Cytoband4p15.33
Allele length
AssemblyAllele length
hg3817018
hg1917018
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11359132
SamplesHG00342
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599693
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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