A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591278



Internal ID6631562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:74130114..74143581hg38UCSC Ensembl
chr2:74357241..74370708hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3813468
hg1913468
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10542396
SamplesHG03679
Known GenesBOLA3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591278
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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