A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587554



Internal ID6974977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:152472027..152483964hg38UCSC Ensembl
chr1:152444503..152456440hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3811938
hg1911938
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10146163
SamplesHG01504
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587554
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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