A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7731366



Internal ID13623654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:118136410..118136520hg38UCSC Ensembl
Innerchr2:118136464..118136465hg38UCSC Ensembl
Outerchr2:118136310..118136620hg38UCSC Ensembl
chr2:118893986..118894096hg19UCSC Ensembl
Innerchr2:118894040..118894041hg19UCSC Ensembl
Outerchr2:118893886..118894196hg19UCSC Ensembl
chr2:118610456..118610566hg18UCSC Ensembl
Innerchr2:118610511..118610510hg18UCSC Ensembl
Outerchr2:118610356..118610666hg18UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38111
hg19111
hg18111
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302635
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7731366
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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