A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309958



Internal ID14810223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:224909785..224909786hg38UCSC Ensembl
Innerchr2:224909758..224909813hg38UCSC Ensembl
Outerchr2:224909757..224909814hg38UCSC Ensembl
chr2:225774502..225774503hg19UCSC Ensembl
Innerchr2:225774475..225774530hg19UCSC Ensembl
Outerchr2:225774474..225774531hg19UCSC Ensembl
chr2:225482746..225482747hg18UCSC Ensembl
Innerchr2:225482774..225482719hg18UCSC Ensembl
Outerchr2:225482718..225482775hg18UCSC Ensembl
Cytoband2q36.2
Allele length
AssemblyAllele length
hg3856
hg1956
hg1856
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7838678, essv7837263
SamplesNA19238, NA19240
Known GenesDOCK10
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309958
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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