A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3353381



Internal ID14853645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:102002458..102004256hg38UCSC Ensembl
Innerchr2:102003256..102003458hg38UCSC Ensembl
Outerchr2:102001458..102005256hg38UCSC Ensembl
chr2:102618920..102620718hg19UCSC Ensembl
Innerchr2:102619718..102619920hg19UCSC Ensembl
Outerchr2:102617920..102621718hg19UCSC Ensembl
chr2:101985352..101987150hg18UCSC Ensembl
Innerchr2:101986352..101986150hg18UCSC Ensembl
Outerchr2:101984352..101988150hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg381799
hg191799
hg181799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8693353
SamplesNA19240
Known GenesIL1R2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3353381
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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