A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893237



Internal ID19184057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:122257902..122540715hg38UCSC Ensembl
Outerchr2:122195957..122602735hg38UCSC Ensembl
Innerchr2:123015478..123298291hg19UCSC Ensembl
Outerchr2:122953533..123360311hg19UCSC Ensembl
Innerchr2:122731948..123014761hg18UCSC Ensembl
Outerchr2:122670003..123076781hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38406779
hg19406779
hg18406779
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25789571, essv25791154, essv25788751, essv25788865
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893237
Frequency
Sample Size3017
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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