A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3440550



Internal ID15287503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:168628799..168628854hg38UCSC Ensembl
Innerchr2:168628819..168628834hg38UCSC Ensembl
Outerchr2:168628764..168628889hg38UCSC Ensembl
chr2:169485309..169485364hg19UCSC Ensembl
Innerchr2:169485329..169485344hg19UCSC Ensembl
Outerchr2:169485274..169485399hg19UCSC Ensembl
chr2:169193555..169193610hg18UCSC Ensembl
Innerchr2:169193590..169193575hg18UCSC Ensembl
Outerchr2:169193520..169193645hg18UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38252
hg19252
hg18252
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8909413, essv8909410, essv8909412, essv8909411, essv8909409
SamplesNA18507, NA18519, NA19137, NA19093, NA18522
Known GenesCERS6
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3440550
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer