A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587584



Internal ID6627886
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10151233
SamplesHG03838
Known GenesS100A2, S100A3, S100A4, S100A5, S100A6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587584
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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