A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587550



Internal ID6974973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:152435939..152464374hg38UCSC Ensembl
chr1:152408415..152436850hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3828436
hg1928436
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10145937, essv10145936
SamplesNA21107, HG01504
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587550
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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