A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7864089



Internal ID12969864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:210197498..210197514hg38UCSC Ensembl
Innerchr2:210197470..210197542hg38UCSC Ensembl
Outerchr2:210197454..210197558hg38UCSC Ensembl
chr2:211062222..211062238hg19UCSC Ensembl
Innerchr2:211062194..211062266hg19UCSC Ensembl
Outerchr2:211062178..211062282hg19UCSC Ensembl
chr2:210770467..210770483hg18UCSC Ensembl
Innerchr2:210770511..210770439hg18UCSC Ensembl
Outerchr2:210770423..210770527hg18UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3449244
Supporting Variants
SamplesNA12005
Known GenesACADL
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7864089
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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