A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593399



Internal ID6633679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:174073939..174079389hg38UCSC Ensembl
chr2:174938667..174944117hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg385451
hg195451
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10763212
SamplesNA18498
Known GenesOLA1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593399
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer