A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7735449



Internal ID14252120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:227525229..227527119hg38UCSC Ensembl
Outerchr2:227525029..227527319hg38UCSC Ensembl
Innerchr2:228389945..228391835hg19UCSC Ensembl
Outerchr2:228389745..228392035hg19UCSC Ensembl
Innerchr2:228098189..228100079hg18UCSC Ensembl
Outerchr2:228097989..228100279hg18UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg382291
hg192291
hg182291
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302833
Supporting Variants
SamplesNA18956
Known GenesAGFG1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7735449
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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