A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593911



Internal ID6981233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:197733967..197741383hg38UCSC Ensembl
chr2:198598691..198606107hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg387417
hg197417
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10815848, essv10815849, essv10815850, essv10815851
SamplesHG02645, HG03433, HG02814, HG03351
Known GenesBOLL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593911
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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