A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588288



Internal ID6975704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:189945998..190008430hg38UCSC Ensembl
chr1:189915128..189977560hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3862433
hg1962433
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10229385
SamplesHG01498
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588288
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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