A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600489



Internal ID6987532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:52118722..52172074hg38UCSC Ensembl
chr4:52984888..53038240hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3853353
hg1953353
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11430714
SamplesHG01323
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600489
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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