A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10151233



Internal ID153049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:153466126..153598991hg38UCSC Ensembl
chr1:153438602..153571467hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38132866
hg19132866
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587584
Supporting Variants
SamplesHG03838
Known GenesS100A2, S100A3, S100A4, S100A5, S100A6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10151233
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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