A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593580



Internal ID6980904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:183096048..183272436hg38UCSC Ensembl
chr2:183960776..184137164hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg38176389
hg19176389
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10788765
SamplesHG01936
Known GenesDUSP19, NUP35
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593580
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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