A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693654



Internal ID15007573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:46877509..46879007hg38UCSC Ensembl
Innerchr2:46878007..46878509hg38UCSC Ensembl
Outerchr2:46876509..46880007hg38UCSC Ensembl
chr2:47104648..47106146hg19UCSC Ensembl
Innerchr2:47105146..47105648hg19UCSC Ensembl
Outerchr2:47103648..47107146hg19UCSC Ensembl
chr2:46958152..46959650hg18UCSC Ensembl
Innerchr2:46959152..46958650hg18UCSC Ensembl
Outerchr2:46957152..46960650hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3447978
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693654
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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