A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7737263



Internal ID13439511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:50615386..50615387hg38UCSC Ensembl
Outerchr3:50615238..50615535hg38UCSC Ensembl
Innerchr3:50652817..50652818hg19UCSC Ensembl
Outerchr3:50652669..50652966hg19UCSC Ensembl
Innerchr3:50627822..50627821hg18UCSC Ensembl
Outerchr3:50627673..50627970hg18UCSC Ensembl
Cytoband3p21.2
Allele length
AssemblyAllele length
hg38298
hg19298
hg18298
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302726
Supporting Variants
SamplesNA12287
Known GenesMAPKAPK3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7737263
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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