A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3304185



Internal ID15151133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:168628812..168628813hg38UCSC Ensembl
Innerchr2:168628754..168628871hg38UCSC Ensembl
Outerchr2:168628753..168628872hg38UCSC Ensembl
chr2:169485322..169485323hg19UCSC Ensembl
Innerchr2:169485264..169485381hg19UCSC Ensembl
Outerchr2:169485263..169485382hg19UCSC Ensembl
chr2:169193568..169193569hg18UCSC Ensembl
Innerchr2:169193627..169193510hg18UCSC Ensembl
Outerchr2:169193509..169193628hg18UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38219
hg19219
hg18219
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7758381, essv7751578, essv7740843, essv7742365, essv7749614
SamplesNA18507, NA18519, NA19137, NA19093, NA18522
Known GenesCERS6
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3304185
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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