A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3366933



Internal ID15213909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:126363658..126363670hg38UCSC Ensembl
Innerchr2:126363635..126363693hg38UCSC Ensembl
Outerchr2:126363623..126363705hg38UCSC Ensembl
chr2:127121235..127121247hg19UCSC Ensembl
Innerchr2:127121212..127121270hg19UCSC Ensembl
Outerchr2:127121200..127121282hg19UCSC Ensembl
chr2:126837705..126837717hg18UCSC Ensembl
Innerchr2:126837740..126837682hg18UCSC Ensembl
Outerchr2:126837670..126837752hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864014
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3366933
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