A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302726



Internal ID15149674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:50615337..50615435hg38UCSC Ensembl
Innerchr3:50615386..50615386hg38UCSC Ensembl
Outerchr3:50615237..50615535hg38UCSC Ensembl
chr3:50652768..50652866hg19UCSC Ensembl
Innerchr3:50652817..50652817hg19UCSC Ensembl
Outerchr3:50652668..50652966hg19UCSC Ensembl
chr3:50627772..50627870hg18UCSC Ensembl
Innerchr3:50627821..50627821hg18UCSC Ensembl
Outerchr3:50627672..50627970hg18UCSC Ensembl
Cytoband3p21.2
Allele length
AssemblyAllele length
hg3899
hg1999
hg1899
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7737263, essv7734144, essv7734770, essv7735260, essv7733725
SamplesNA18507, NA18944, NA12287, NA12044, NA18951
Known GenesMAPKAPK3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302726
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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