A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7864143



Internal ID12969938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:62456765..62456780hg38UCSC Ensembl
Innerchr3:62456739..62456806hg38UCSC Ensembl
Outerchr3:62456724..62456821hg38UCSC Ensembl
chr3:62442440..62442455hg19UCSC Ensembl
Innerchr3:62442414..62442481hg19UCSC Ensembl
Outerchr3:62442399..62442496hg19UCSC Ensembl
chr3:62417480..62417495hg18UCSC Ensembl
Innerchr3:62417521..62417454hg18UCSC Ensembl
Outerchr3:62417439..62417536hg18UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg3859
hg1959
hg1859
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3364849
Supporting Variants
SamplesNA12005
Known GenesCADPS
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7864143
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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