A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7737449



Internal ID14552764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:25492145..25492146hg38UCSC Ensembl
Outerchr8:25491963..25492329hg38UCSC Ensembl
Innerchr8:25349661..25349662hg19UCSC Ensembl
Outerchr8:25349479..25349845hg19UCSC Ensembl
Innerchr8:25405579..25405578hg18UCSC Ensembl
Outerchr8:25405396..25405762hg18UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38367
hg19367
hg18367
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302837
Supporting Variants
SamplesNA19137
Known GenesCDCA2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7737449
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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