A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692298



Internal ID14764571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:3335828..3338226hg38UCSC Ensembl
Innerchr1:3336828..3337226hg38UCSC Ensembl
Outerchr1:3334828..3339226hg38UCSC Ensembl
chr1:3252392..3254790hg19UCSC Ensembl
Innerchr1:3253392..3253790hg19UCSC Ensembl
Outerchr1:3251392..3255790hg19UCSC Ensembl
chr1:3242252..3244650hg18UCSC Ensembl
Innerchr1:3243252..3243650hg18UCSC Ensembl
Outerchr1:3241252..3245650hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg382399
hg192399
hg182399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3340545
Supporting Variants
SamplesNA19240
Known GenesPRDM16
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692298
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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